PCCB (P05166) variants and mutations
PCCB (also known as P05166) is a human protein-coding gene encoding a propionyl-CoA carboxylase beta chain, mitochondrial protein. The beta subunit of mitochondrial propionyl-CoA carboxylase, a biotin-dependent enzyme in amino-acid and fatty-acid breakdown. Variants cause propionic acidemia. This analysis covers 1,094 PCCB variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes propionic acidemia, hereditary disease, and hypertensive disorder. Example PCCB variants include M1I, M1K, and M1R.
Variant analysis overview
- Gene: PCCB
- Protein: P05166
- UniProt accession: P05166
- Organism: Homo sapiens
- Variants analyzed: 1094
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 920 unspecified-consequence records; 2 in-frame insertions; 113 missense variants; 5 in-frame deletions; 63 synonymous variants; 5 frameshift variants; 5 stop-gained variants; 1 coding sequence variant; 1 substitution
- Prediction scores: 1,074 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: propionic acidemia, hereditary disease, hypertensive disorder, coronary artery disorder, coronary atherosclerosis, heart disorder, intellectual disability, autosomal dominant 47, dilated cardiomyopathy, essential hypertension, Abnormality of metabolism/homeostasis, atrial fibrillation, Abnormality of the skeletal system.
Protein structure and variant hotspots
- Protein features: 2 domains; 8 post-translational modification sites.
- Structural context: 936 variants have structural context.
- PTM context: 12 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Diseases linked to PCCB
Notable PCCB variants
Examples include M1I, M1K, M1R, M1T, A2E, A2T, A2V, A2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs398123464, ClinGen CA221103, ClinVar RCV000173153, ClinVar RCV001203595, ESM-1b 0.11, AlphaMissense 0.31, Pathogenic/Likely pathogenic, not provided; Propionic acidemia
- M1K (p.Met1Lys), rs398123462, ClinGen CA221100, ClinVar RCV000173152, ESM-1b 0.71, AlphaMissense 0.42, Pathogenic, Propionic acidemia
- M1R (p.Met1Arg), rs398123462, ClinGen CA354737809, ClinVar RCV003511578, ESM-1b 0.00, AlphaMissense 0.30, Pathogenic, Propionic acidemia
- M1T (p.Met1Thr), rs398123462, ClinGen CA354737808, ClinVar RCV001378948, ESM-1b 0.00, AlphaMissense 0.23, Pathogenic, Propionic acidemia
- A2E (p.Ala2Glu), rs748003396, ClinGen CA354737815, ClinVar RCV003088332, REVEL 0.57, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- A2T (p.Ala2Thr), Ensembl rs1941474133, REVEL 0.55, ESM-1b 0.51
- A2V (p.Ala2Val), rs748003396, ClinGen CA2631540, ClinVar RCV003082939, ExAC rs748003396, REVEL 0.50, ESM-1b 0.61, Uncertain significance, Propionic acidemia
- A2S (p.Ala2Ser), gnomAD 3-136250379-G-T, REVEL 0.38, ESM-1b 0.09
- A2A (p.Ala2Ala), gnomAD 3-136250381-G-T, CADD 8.10
- A3V (p.Ala3Val), rs373685372, ClinGen CA2631542, ClinVar RCV001901349, ClinVar RCV003289205, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Propionic acidemia
- A3T (p.Ala3Thr), gnomAD 3-136250382-G-A, REVEL 0.45, ESM-1b 0.00
- A3S (p.Ala3Ser), gnomAD 3-136250382-G-T, REVEL 0.48, ESM-1b 0.00
- A3E (p.Ala3Glu), gnomAD 3-136250383-C-A, REVEL 0.54, ESM-1b 1.00
- A3A (p.Ala3Ala), rs763025114, gnomAD 3-136250384-G-A, CADD 8.38
- A4P (p.Ala4Pro), ExAC rs771166696, gnomAD rs771166696, REVEL 0.52, ESM-1b 0.00
- A4T (p.Ala4Thr), ExAC rs771166696, gnomAD rs771166696, REVEL 0.49, ESM-1b 0.00
- A4V (p.Ala4Val), ExAC rs774667212, gnomAD rs774667212, REVEL 0.53, ESM-1b 0.00
- A4S (p.Ala4Ser), gnomAD 3-136250385-G-T, REVEL 0.44, ESM-1b 0.00
- A4E (p.Ala4Glu), gnomAD 3-136250386-C-A, REVEL 0.63, ESM-1b 1.00
- A4A (p.Ala4Ala), rs1476876445, gnomAD 3-136250387-A-G, CADD 6.70
- L5* (p.Leu5Ter), rs1292452485, ClinGen CA354737829, ClinVar RCV000672023, gnomAD rs1292452485, AlphaMissense 0.11, MetaLR 0.81, Pathogenic
- L5F (p.Leu5Phe), cosmic curated COSV11323, gnomAD rs1195851588, ESM-1b 0.34, AlphaMissense 0.09
- L5S (p.Leu5Ser), gnomAD rs1292452485, REVEL 0.50, ESM-1b 0.00, Pathogenic
- p.Leu5 Ala9del, rs1553773148, gnomAD 3-136250380-CGGCG, CADD 18.90
- L5L (p.Leu5Leu), gnomAD 3-136250390-A-G, CADD 8.11
- R6G (p.Arg6Gly), rs377681768, ClinGen CA354737832, ClinVar RCV002730222, ESP rs377681768, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- R6L (p.Arg6Leu), rs767965814, ClinGen CA354737834, ClinVar RCV001889069, ClinVar RCV004041375, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Propionic acidemia
- R6P (p.Arg6Pro), ExAC rs767965814, TOPMed rs767965814, gnomAD rs767965814, REVEL 0.60, ESM-1b 0.00, Uncertain significance
- R6Q (p.Arg6Gln), rs767965814, ClinGen CA2631547, ClinVar RCV003354527, ExAC rs767965814, REVEL 0.38, ESM-1b 0.26, Uncertain significance, Inborn genetic diseases
- R6W (p.Arg6Trp), rs377681768, ClinGen CA2631546, ClinVar RCV001232976, ESP rs377681768, REVEL 0.47, ESM-1b 0.64, Uncertain significance, Propionic acidemia
- R6R (p.Arg6Arg), rs377681768, gnomAD 3-136250391-C-A, CADD 10.10
- V7E (p.Val7Glu), ExAC rs753174948, gnomAD rs753174948, REVEL 0.59, ESM-1b 1.00
- V7G (p.Val7Gly), ExAC rs753174948, gnomAD rs753174948, REVEL 0.47, ESM-1b 0.00
- V7L (p.Val7Leu), rs1306052988, ClinGen CA354737837, ClinVar RCV003066164, TOPMed rs1306052988, REVEL 0.42, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- V7M (p.Val7Met), cosmic curated COSV10509, TOPMed rs1306052988, gnomAD rs1306052988, REVEL 0.37, ESM-1b 0.00, Uncertain significance
- V7A (p.Val7Ala), gnomAD 3-136250395-T-C, REVEL 0.45, ESM-1b 0.00
- V7V (p.Val7Val), rs1404763021, gnomAD 3-136250396-G-A, CADD 8.99
- A8G (p.Ala8Gly), ExAC rs764602019, TOPMed rs764602019, gnomAD rs764602019, REVEL 0.32, ESM-1b 0.00, Uncertain significance
- A8P (p.Ala8Pro), TOPMed rs1426876371, REVEL 0.52, ESM-1b 0.00
- A8T (p.Ala8Thr), TOPMed rs1426876371, REVEL 0.29, ESM-1b 0.00
- A8V (p.Ala8Val), rs764602019, ClinGen CA2631550, ClinVar RCV001302827, ExAC rs764602019, REVEL 0.37, ESM-1b 0.00, Uncertain significance, PCCB-related disorder; Propionic acidemia
- A8E (p.Ala8Glu), gnomAD 3-136250398-C-A, REVEL 0.33, ESM-1b 1.00
- A8A (p.Ala8Ala), gnomAD 3-136250399-G-A, CADD 8.40
- A9T (p.Ala9Thr), NCI-TCGA TCGA novel, Ensembl rs1941476162, REVEL 0.40, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A9V (p.Ala9Val), gnomAD rs1339178920, REVEL 0.34, ESM-1b 0.00
- p.Ala9 Val10insAlaLeuArgValAlaAl, gnomAD 3-136250376-A-ATG, CADD 20.60
- A9S (p.Ala9Ser), gnomAD 3-136250400-G-T, REVEL 0.35, ESM-1b 0.00
- A9E (p.Ala9Glu), gnomAD 3-136250401-C-A, REVEL 0.52, ESM-1b 0.96
- A9G (p.Ala9Gly), gnomAD 3-136250401-C-G, REVEL 0.35, ESM-1b 0.00
- A9A (p.Ala9Ala), rs1402404407, gnomAD 3-136250402-G-A, CADD 7.31
- V10A (p.Val10Ala), Ensembl rs2108127744, REVEL 0.32, ESM-1b 0.00
- V10G (p.Val10Gly), Ensembl rs2108127744, REVEL 0.37, ESM-1b 0.00
- V10I (p.Val10Ile), gnomAD 3-136250403-G-A, REVEL 0.27, ESM-1b 0.23
- V10V (p.Val10Val), rs754303318, gnomAD 3-136250405-C-T, CADD 3.17
- G11R (p.Gly11Arg), rs757860152, ClinGen CA2631553, ClinVar RCV001953037, ExAC rs757860152, REVEL 0.46, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G11V (p.Gly11Val), cosmic curated COSV10509, REVEL 0.41, ESM-1b 0.00
- G11W (p.Gly11Trp), gnomAD 3-136250406-G-T, REVEL 0.44, ESM-1b 0.00
- G11A (p.Gly11Ala), gnomAD 3-136250407-G-C, REVEL 0.40, ESM-1b 0.00
- G11G (p.Gly11Gly), gnomAD 3-136250408-G-A, CADD 5.99
- A12E (p.Ala12Glu), rs1257439275, ClinGen CA354737865, ClinVar RCV001333501, TOPMed rs1257439275, REVEL 0.28, ESM-1b 0.51, Uncertain significance, Propionic acidemia
- A12G (p.Ala12Gly), TOPMed rs1257439275, gnomAD rs1257439275, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- A12P (p.Ala12Pro), TOPMed rs1230563587, gnomAD rs1230563587, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance
- A12T (p.Ala12Thr), rs1230563587, ClinGen CA354737860, ClinVar RCV003083276, TOPMed rs1230563587, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- A12S (p.Ala12Ser), gnomAD 3-136250409-G-T, REVEL 0.29, ESM-1b 0.00
- A12V (p.Ala12Val), gnomAD 3-136250410-C-T, REVEL 0.31, ESM-1b 0.00
- A12A (p.Ala12Ala), gnomAD 3-136250411-A-G, CADD 5.04
- R13K (p.Arg13Lys), rs1941477030, ClinGen CA354737868, ClinVar RCV001242860, gnomAD rs1941477030, REVEL 0.28, ESM-1b 0.09, Uncertain significance, Propionic acidemia
- R13S (p.Arg13Ser), ExAC rs751189567, TOPMed rs751189567, gnomAD rs751189567, REVEL 0.41, ESM-1b 0.00, Uncertain significance, not provided
- R13M (p.Arg13Met), gnomAD 3-136250413-G-T, REVEL 0.43, ESM-1b 1.00
- R13T (p.Arg13Thr), gnomAD 3-136250413-G-C, REVEL 0.35, ESM-1b 1.00
- R13R (p.Arg13Arg), rs751189567, gnomAD 3-136250414-G-A, CADD 7.94
- L14F (p.Leu14Phe), rs1215705998, ClinGen CA354737875, ClinVar RCV002006211, ClinVar RCV006367981, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Propionic acidemia
- L14I (p.Leu14Ile), rs1215705998, ClinGen CA354737873, ClinVar RCV002627769, REVEL 0.27, ESM-1b 0.11, Uncertain significance, Propionic acidemia
- L14V (p.Leu14Val), TOPMed rs1215705998, gnomAD rs1215705998, REVEL 0.24, ESM-1b 0.00, Uncertain significance
- L14P (p.Leu14Pro), gnomAD 3-136250416-T-C, REVEL 0.42, ESM-1b 0.00
- L14L (p.Leu14Leu), gnomAD 3-136250417-C-G, CADD 5.97
- S15G (p.Ser15Gly), gnomAD rs1941477368, REVEL 0.26, ESM-1b 0.00
- S15N (p.Ser15Asn), gnomAD 3-136250419-G-A, REVEL 0.25, ESM-1b 0.17
- S15S (p.Ser15Ser), rs754664563, gnomAD 3-136250420-C-T, CADD 5.38
- S15R (p.Ser15Arg), gnomAD 3-136250420-C-A, REVEL 0.28, ESM-1b 0.00
- S15T (p.Ser15Thr), rs947973688, gnomAD 3-136251270-G-C, REVEL 0.02, ESM-1b 0.00
- V16F (p.Val16Phe), rs780842004, ClinGen CA2631556, ClinVar RCV000812873, ClinVar RCV005392431, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Propionic acidemia; Inborn genetic diseases
- V16I (p.Val16Ile), gnomAD 3-136250421-G-A, REVEL 0.20, ESM-1b 0.25
- L17M (p.Leu17Met), rs200185747, ClinGen CA312824, cosmic curated COSV52443, ClinVar RCV000186089, REVEL 0.59, ESM-1b 0.56, Conflicting interpretations, not specified; not provided; Propionic acidemia
- L17P (p.Leu17Pro), Ensembl rs2108127805, ESM-1b 0.00, AlphaMissense 0.07
- L17V (p.Leu17Val), 1000Genomes rs200185747, ESP rs200185747, ExAC rs200185747, TOPMed rs200185747, REVEL 0.36, ESM-1b 0.00, Benign, in PA-2
- L17L (p.Leu17Leu), rs200185747, gnomAD 3-136250424-C-T, CADD 8.36
- A18G (p.Ala18Gly), rs769481450, ClinGen CA354737900, ClinVar RCV002004928, ExAC rs769481450, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Propionic acidemia
- A18V (p.Ala18Val), rs769481450, ClinGen CA2631557, ClinVar RCV003062696, ClinVar RCV005255740, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not provided; Propionic acidemia
- A18T (p.Ala18Thr), gnomAD 3-136250427-G-A, REVEL 0.30, ESM-1b 0.00
- A18S (p.Ala18Ser), gnomAD 3-136250427-G-T, REVEL 0.37, ESM-1b 0.00
- A18E (p.Ala18Glu), gnomAD 3-136250428-C-A, REVEL 0.36, ESM-1b 0.00
- A18A (p.Ala18Ala), rs1343618692, gnomAD 3-136250429-G-A, CADD 9.14
- S19N (p.Ser19Asn), gnomAD 3-136250431-G-A, REVEL 0.28, ESM-1b 0.04
- S19I (p.Ser19Ile), gnomAD 3-136250431-G-T, REVEL 0.39, ESM-1b 0.89
- S19S (p.Ser19Ser), rs1196995378, gnomAD 3-136250432-C-T, CADD 7.43
- S19R (p.Ser19Arg), gnomAD 3-136250432-C-A, REVEL 0.21, ESM-1b 0.00
- G20A (p.Gly20Ala), ExAC rs749205316, gnomAD rs749205316, REVEL 0.27, ESM-1b 0.00
- G20C (p.Gly20Cys), rs777726717, ClinGen CA2631560, ClinVar RCV002720904, ExAC rs777726717, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G20R (p.Gly20Arg), ExAC rs777726717, TOPMed rs777726717, gnomAD rs777726717, REVEL 0.31, ESM-1b 0.00, Uncertain significance
- G20S (p.Gly20Ser), rs777726717, ClinGen CA2631558, ClinVar RCV001941436, ExAC rs777726717, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G20D (p.Gly20Asp), gnomAD 3-136250434-G-A, REVEL 0.30, ESM-1b 0.01
- G20G (p.Gly20Gly), gnomAD 3-136250435-T-A, CADD 8.62
- G20E (p.Gly20Glu), rs1353478434, gnomAD 3-136251288-G-A, REVEL 0.12, ESM-1b 0.00
- L21I (p.Leu21Ile), gnomAD 3-136250436-C-A, REVEL 0.24, ESM-1b 0.32
- L21R (p.Leu21Arg), gnomAD 3-136250437-T-G, REVEL 0.46, ESM-1b 0.00
- L21L (p.Leu21Leu), gnomAD 3-136250438-C-T, CADD 7.55
- R22C (p.Arg22Cys), rs771117263, ClinGen CA2631563, ClinVar RCV002604509, ExAC rs771117263, REVEL 0.35, ESM-1b 0.31, Uncertain significance, Propionic acidemia
- R22G (p.Arg22Gly), ExAC rs771117263, TOPMed rs771117263, gnomAD rs771117263, REVEL 0.33, ESM-1b 0.00, Uncertain significance
- R22H (p.Arg22His), Ensembl rs1010218920, REVEL 0.33, ESM-1b 0.14
- R22R (p.Arg22Arg), rs759836996, gnomAD 3-136250441-C-G, CADD 8.60
- A23T (p.Ala23Thr), rs772483250, ClinGen CA2631565, ClinVar RCV001893968, ExAC rs772483250, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- A23V (p.Ala23Val), rs2529731469, ClinGen CA354737925, ClinVar RCV002766781, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- A23S (p.Ala23Ser), gnomAD 3-136250442-G-T, REVEL 0.25, ESM-1b 0.00
- A23D (p.Ala23Asp), gnomAD 3-136250443-C-A, REVEL 0.25, ESM-1b 0.30
- A23A (p.Ala23Ala), gnomAD 3-136250444-C-A, CADD 6.32
- A24T (p.Ala24Thr), cosmic curated COSV52444, REVEL 0.22, ESM-1b 0.00
- A24V (p.Ala24Val), ExAC rs775585333, TOPMed rs775585333, gnomAD rs775585333, REVEL 0.28, ESM-1b 0.00
- A24A (p.Ala24Ala), rs1389353704, gnomAD 3-136250447-G-T, CADD 2.52
- V25I (p.Val25Ile), rs968929973, ClinGen CA84265575, ClinVar RCV003097484, gnomAD rs968929973, REVEL 0.28, ESM-1b 0.79, Uncertain significance, not provided; Propionic acidemia
- V25L (p.Val25Leu), gnomAD 3-136250448-G-C, REVEL 0.32, ESM-1b 0.00
- V25V (p.Val25Val), rs761030422, gnomAD 3-136250450-C-G, CADD 4.05
- R26C (p.Arg26Cys), ExAC rs764394169, TOPMed rs764394169, gnomAD rs764394169, REVEL 0.54, ESM-1b 0.00
- R26G (p.Arg26Gly), ExAC rs764394169, TOPMed rs764394169, gnomAD rs764394169, ESM-1b 0.93, AlphaMissense 0.08
- R26P (p.Arg26Pro), rs1941479615, gnomAD 3-136250449-T-TC, CADD 16.50
- R26H (p.Arg26His), gnomAD 3-136250452-G-A, REVEL 0.51, ESM-1b 0.76
- R26R (p.Arg26Arg), gnomAD 3-136250453-C-A, CADD 10.20
- S27N (p.Ser27Asn), gnomAD 3-136250455-G-A, REVEL 0.31, ESM-1b 0.00
- S27R (p.Ser27Arg), gnomAD 3-136250456-C-A, REVEL 0.35, ESM-1b 0.00
- L28F (p.Leu28Phe), rs141137691, ClinGen CA2631570, ClinVar RCV002646474, 1000Genomes rs141137691, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- L28I (p.Leu28Ile), 1000Genomes rs141137691, ESP rs141137691, ExAC rs141137691, TOPMed rs141137691, REVEL 0.24, ESM-1b 0.83, Uncertain significance
- L28V (p.Leu28Val), rs141137691, ClinGen CA2631569, ClinVar RCV000405424, ClinVar RCV001795957, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases; Propionic acidemia
- L28R (p.Leu28Arg), gnomAD 3-136250458-T-G, REVEL 0.51, ESM-1b 0.16
- C29F (p.Cys29Phe), rs765843410, ClinGen CA2631571, ClinVar RCV001884686, ExAC rs765843410, REVEL 0.46, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- C29S (p.Cys29Ser), gnomAD 3-136250461-G-C, REVEL 0.35, ESM-1b 0.00
- C29C (p.Cys29Cys), gnomAD 3-136250462-C-T, CADD 13.60
- S30G (p.Ser30Gly), rs2529731623, ClinGen CA354737961, ClinVar RCV003624715, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Propionic acidemia
- S30I (p.Ser30Ile), gnomAD 3-136250464-G-T, REVEL 0.41, ESM-1b 1.00
- S30S (p.Ser30Ser), gnomAD 3-136250465-C-T, CADD 13.10
- S30R (p.Ser30Arg), gnomAD 3-136250465-C-A, REVEL 0.36, ESM-1b 1.00
- Q31H (p.Gln31His), TOPMed rs966385891, gnomAD rs966385891, REVEL 0.34, ESM-1b 0.00
- Q31* (p.Gln31Ter), gnomAD 3-136250466-C-T, CADD 37.00
- A32P (p.Ala32Pro), ExAC rs751136139, TOPMed rs751136139, gnomAD rs751136139, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- A32S (p.Ala32Ser), ExAC rs751136139, TOPMed rs751136139, gnomAD rs751136139, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Inborn genetic diseases
- A32T (p.Ala32Thr), rs751136139, ClinGen CA2631572, cosmic curated COSV10803, ClinVar RCV001145981, ESM-1b 0.17, AlphaMissense 0.07, Uncertain significance, Propionic acidemia
- A32V (p.Ala32Val), rs2108127907, ClinGen CA354737978, ClinVar RCV001963473, Ensembl rs2108127907, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Propionic acidemia
- T33I (p.Thr33Ile), ExAC rs767133576, TOPMed rs767133576, gnomAD rs767133576, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T33S (p.Thr33Ser), gnomAD 3-136250473-C-G, REVEL 0.28, ESM-1b 0.00
- T33T (p.Thr33Thr), rs1941480501, gnomAD 3-136250474-C-G, CADD 6.45
- S34F (p.Ser34Phe), cosmic curated COSV10586, Ensembl rs770769499, ESM-1b 0.51, AlphaMissense 0.21
- S34C (p.Ser34Cys), gnomAD 3-136250476-C-G, REVEL 0.44, ESM-1b 0.05
- S34S (p.Ser34Ser), rs1217204517, gnomAD 3-136250477-T-C, CADD 2.39
- V35A (p.Val35Ala), gnomAD 3-136250479-T-C, REVEL 0.45, ESM-1b 0.06
- N36* (p.Asn36Ter), rs2108127935, ClinGen CA2499216492, ClinVar RCV001384996, Pathogenic
- N36H (p.Asn36His), rs1941480759, ClinGen CA354737995, ClinVar RCV003110640, TOPMed rs1941480759, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- N36K (p.Asn36Lys), TOPMed rs1264842754, gnomAD rs1264842754, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E37Q (p.Glu37Gln), gnomAD 3-136250484-G-C, REVEL 0.57, ESM-1b 0.45
- E37D (p.Glu37Asp), gnomAD 3-136251247-A-C, REVEL 0.07, ESM-1b 0.00
- E37* (p.Glu37Ter), rs1431643380, gnomAD 3-136251263-G-T, CADD 5.39
- E37A (p.Glu37Ala), rs1051773363, gnomAD 3-136251291-A-C, ESM-1b 1.00, AlphaMissense 0.11
- R38H (p.Arg38His), cosmic curated COSV52448, gnomAD rs1488190326, REVEL 0.64, ESM-1b 0.45
- I39L (p.Ile39Leu), gnomAD rs1208205672, REVEL 0.58, ESM-1b 0.00, Uncertain significance
- I39M (p.Ile39Met), TOPMed rs1941481129, ESM-1b 0.00, AlphaMissense 0.15
- I39S (p.Ile39Ser), rs182412270, ClinGen CA354738021, ClinVar RCV002820172, ESM-1b 1.00, AlphaMissense 0.43, Uncertain significance, Propionic acidemia
- I39T (p.Ile39Thr), rs182412270, ClinGen CA2631575, ClinVar RCV000313553, ClinVar RCV005861102, REVEL 0.91, ESM-1b 1.00, Uncertain significance, not provided; Propionic acidemia
- I39V (p.Ile39Val), rs1208205672, ClinGen CA354738019, ClinVar RCV001362596, gnomAD rs1208205672, REVEL 0.54, ESM-1b 0.16, Uncertain significance, Propionic acidemia
- I39I (p.Ile39Ile), gnomAD 3-136250492-C-T, CADD 13.10
- E40G (p.Glu40Gly), rs755889266, ClinGen CA2631576, cosmic curated COSV52444, ClinVar RCV002585657, REVEL 0.53, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- E40K (p.Glu40Lys), cosmic curated COSV52447, gnomAD rs1469031248, REVEL 0.47, ESM-1b 1.00
- E40A (p.Glu40Ala), gnomAD 3-136250494-A-C, REVEL 0.40, ESM-1b 0.60
- N41K (p.Asn41Lys), ExAC rs777478881, gnomAD rs777478881, REVEL 0.20, ESM-1b 0.00
- K42E (p.Lys42Glu), Ensembl rs1941481472, REVEL 0.62, ESM-1b 0.72
- K42R (p.Lys42Arg), TOPMed rs1441973778, gnomAD rs1441973778, REVEL 0.62, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- K42N (p.Lys42Asn), gnomAD 3-136250501-G-C, REVEL 0.56, ESM-1b 0.91
- R43C (p.Arg43Cys), rs1031941989, ClinGen CA84265579, ClinVar RCV001924905, TOPMed rs1031941989, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- R43H (p.Arg43His), rs1941481863, ClinGen CA354738047, ClinVar RCV001884101, TOPMed rs1941481863, REVEL 0.73, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- R44G (p.Arg44Gly), rs749210374, ClinGen CA354738050, ClinVar RCV001988492, ExAC rs749210374, REVEL 0.35, ESM-1b 1.00, Uncertain significance, Propionic acidemia
- R44P (p.Arg44Pro), UniProt VAR 000271, REVEL 0.65, ESM-1b 1.00, Pathogenic, in PA-2
- R44Q (p.Arg44Gln), rs375014273, ClinGen CA2631579, ClinVar RCV001557958, ClinVar RCV001827469, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided; Propionic acidemia
- R44W (p.Arg44Trp), rs749210374, ClinGen CA2631578, ClinVar RCV002049835, ExAC rs749210374, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Propionic acidemia
Public PCCB analysis runs
- PCCB analysis run — PCCB (1,094 variants) — completed 2026-10-09