HBD (Hemoglobin subunit delta) variants and mutations
The associated protein is Hemoglobin subunit delta. Delta-globin, a minor hemoglobin chain that contributes to the small adult hemoglobin A2 fraction. Like other globins, it participates in the hemoglobin complex that carries oxygen through the bloodstream. This CATVariant analysis covers 475 HBD variants and mutations. Disease context includes delta-beta-thalassemia; this analysis is associated with delta-beta-thalassemia. Available evidence includes missense variants, protein structure.
Variant analysis overview
- Gene: HBD
- Protein: Hemoglobin subunit delta
- UniProt accession: P02042
- Organism: Homo sapiens
- Variants analyzed: 475
- Variant scope: all variants
- Completed: 2026-06-08
Variant and mutation evidence
- Variant composition: 249 unspecified-consequence records; 7 stop lost; 76 synonymous variants; 112 missense variants; 7 stop-gained variants; 17 frameshift variants; 3 in-frame deletions; 1 in-frame insertions; 1 protein altering variant; 2 splice-region variants
- Prediction scores: 471 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: delta-beta-thalassemia, Hereditary persistence of fetal hemoglobin - beta-thalassemia, alpha thalassemia spectrum, Alpha-thalassemia, anemia, beta-thalassemia HBB/LCRB, Abnormal hemoglobin, Persistence of hemoglobin F, Reduced beta/alpha synthesis ratio, glucocorticoid-remediable aldosteronism, hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Thalassemia.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 binding sites; 2 post-translational modification sites.
- Structural context: 469 variants have structural context.
- PTM context: 5 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.
Notable HBD variants
Examples include V2A, V2V, V2L, H3L, H3N, H3P, H3R, H3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- V2A (p.Val2Ala), rs34991152, ClinGen CA124680, ClinVar RCV000016220, UniProt VAR 003096, REVEL 0.53, ESM-1b 1.00, other, HEMOGLOBIN A(2) NIIGATA
- V2V (p.Val2Val), rs1454993638, gnomAD 11-5234428-C-T, CADD 5.97
- V2L (p.Val2Leu), gnomAD 11-5234430-C-A, REVEL 0.52, ESM-1b 1.00
- H3L (p.His3Leu), rs35433207, UniProt VAR 030499, ExAC rs35433207, TOPMed rs35433207, ESM-1b 0.00, AlphaMissense 0.26, Benign, in Catania
- H3N (p.His3Asn), ExAC rs281864510, TOPMed rs281864510, gnomAD rs281864510, REVEL 0.65, ESM-1b 1.00
- H3P (p.His3Pro), ExAC rs35433207, TOPMed rs35433207, gnomAD rs35433207, REVEL 0.50, ESM-1b 1.00
- H3R (p.His3Arg), rs35433207, ClinGen CA124659, ClinVar RCV000016202, UniProt VAR 003097, REVEL 0.52, ESM-1b 1.00, other, HEMOGLOBIN A(2) SPHAKIA
- H3H (p.His3His), rs1847715571, gnomAD 11-5234425-A-G, CADD 2.08
- L4L (p.Leu4Leu), rs764233236, gnomAD 11-5234422-C-T, CADD 4.38
- T5I (p.Thr5Ile), rs35406175, ClinGen CA5840007, ClinVar RCV004692231, ClinVar RCV005400467, REVEL 0.55, ESM-1b 1.00, Uncertain significance, not provided; Thalassemia
- T5S (p.Thr5Ser), rs35406175, UniProt VAR 018741, 1000Genomes rs35406175, ESP rs35406175, REVEL 0.31, ESM-1b 0.00, Benign, in haplotype T11
- T5T (p.Thr5Thr), gnomAD 11-5234419-A-G, CADD 7.65
- T5N (p.Thr5Asn), gnomAD 11-5234420-G-T, REVEL 0.45, ESM-1b 1.00
- P6A (p.Pro6Ala), rs562543884, ClinGen CA5840006, ClinVar RCV004399275, 1000Genomes rs562543884, REVEL 0.40, ESM-1b 0.00, Uncertain significance, not specified
- P6H (p.Pro6His), ExAC rs759483345, gnomAD rs759483345, ESM-1b 0.78, AlphaMissense 0.16
- P6L (p.Pro6Leu), ExAC rs759483345, gnomAD rs759483345, REVEL 0.45, ESM-1b 0.11
- P6R (p.Pro6Arg), NCI-TCGA Cosmic COSV9949, cosmic curated COSV99496, REVEL 0.48, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P6S (p.Pro6Ser), 1000Genomes rs562543884, ExAC rs562543884, TOPMed rs562543884, gnomAD rs562543884, REVEL 0.40, ESM-1b 0.00, Uncertain significance
- P6T (p.Pro6Thr), gnomAD 11-5234418-G-T, REVEL 0.53, ESM-1b 0.00
- E7D (p.Glu7Asp), rs774077053, ExAC rs774077053, TOPMed rs774077053, gnomAD rs774077053, REVEL 0.50, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E7K (p.Glu7Lys), gnomAD rs281864565, REVEL 0.55, ESM-1b 1.00
- E7Q (p.Glu7Gln), gnomAD rs281864565, REVEL 0.48, ESM-1b 0.15
- E7E (p.Glu7Glu), gnomAD 11-5234413-C-T, CADD 0.14
- E8* (p.Glu8Ter), TOPMed rs1847715204, CADD 37.00
- E8A (p.Glu8Ala), Ensembl rs63751203, ESM-1b 1.00, AlphaMissense 0.88
- E8D (p.Glu8Asp), Ensembl rs281864508, REVEL 0.59, ESM-1b 0.00
- E8K (p.Glu8Lys), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, ESM-1b 1.00, AlphaMissense 0.96, Variant assessed as somatic; moderate impact.
- E8del (p.Glu8del), rs1486964767, gnomAD 11-5234409-TCTC-T, CADD 15.60
- E8Q (p.Glu8Gln), gnomAD 11-5234412-C-G, REVEL 0.67, ESM-1b 0.29
- K9E (p.Lys9Glu), Ensembl rs35345203, ESM-1b 1.00, AlphaMissense 0.59
- T10I (p.Thr10Ile), rs762782488, ClinGen CA5840002, ClinVar RCV004399276, ExAC rs762782488, REVEL 0.59, ESM-1b 0.59, Uncertain significance, not specified
- T10S (p.Thr10Ser), ExAC rs770750995, gnomAD rs770750995, REVEL 0.52, ESM-1b 0.00
- T10P (p.Thr10Pro), gnomAD 11-5234406-T-G, REVEL 0.57, ESM-1b 1.00
- A11D (p.Ala11Asp), UniProt VAR 030500, REVEL 0.51, ESM-1b 1.00, Uncertain significance, in MUMC/Corleone
- A11A (p.Ala11Ala), gnomAD 11-5234401-A-G, CADD 0.42
- V12G (p.Val12Gly), rs34090605, UniProt VAR 030501, ExAC rs34090605, TOPMed rs34090605, REVEL 0.73, ESM-1b 1.00, Benign, in Pylos
- V12V (p.Val12Val), gnomAD 11-5234398-G-A, CADD 1.63
- N13K (p.Asn13Lys), rs34313675, ClinGen CA124655, ClinVar RCV000016199, ClinVar RCV000016200, REVEL 0.42, ESM-1b 0.00, other, HEMOGLOBIN A(2) NYU; HEMOGLOBIN NYU
- N13S (p.Asn13Ser), ExAC rs747684647, TOPMed rs747684647, gnomAD rs747684647, REVEL 0.37, ESM-1b 0.00
- N13T (p.Asn13Thr), gnomAD 11-5234396-T-G, REVEL 0.51, ESM-1b 0.00
- A14D (p.Ala14Asp), TOPMed rs35291639, gnomAD rs35291639, REVEL 0.57, ESM-1b 0.00
- A14S (p.Ala14Ser), ExAC rs772497026, gnomAD rs772497026, REVEL 0.48, ESM-1b 0.00
- A14V (p.Ala14Val), TOPMed rs35291639, gnomAD rs35291639, REVEL 0.59, ESM-1b 0.26
- A14A (p.Ala14Ala), rs746381682, gnomAD 11-5234392-G-C, CADD 3.81
- L15V (p.Leu15Val), gnomAD 11-5234391-G-C, REVEL 0.51, ESM-1b 0.00
- L15L (p.Leu15Leu), rs779230012, gnomAD 11-5234391-G-A, CADD 0.74
- W16* (p.Trp16Ter), TOPMed rs1847714495, gnomAD rs1847714495, CADD 36.00
- W16C (p.Trp16Cys), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, REVEL 0.71, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- W16G (p.Trp16Gly), TOPMed rs1847714559, ESM-1b 1.00, AlphaMissense 0.91
- W16L (p.Trp16Leu), ExAC rs757622703, gnomAD rs757622703, REVEL 0.60, ESM-1b 1.00
- G17D (p.Gly17Asp), gnomAD rs1172700897, REVEL 0.57, ESM-1b 0.33
- G17R (p.Gly17Arg), rs34012192, ClinGen CA124633, ClinVar RCV000016186, ClinVar RCV000016187, REVEL 0.55, ESM-1b 1.00, other, HEMOGLOBIN A(2)-PRIME; HEMOGLOBIN B(2)
- G17S (p.Gly17Ser), cosmic curated COSV53083, 1000Genomes rs34012192, ESP rs34012192, ExAC rs34012192, ESM-1b 0.00, AlphaMissense 0.09
- G17V (p.Gly17Val), gnomAD rs1172700897, REVEL 0.60, ESM-1b 1.00
- K18* (p.Lys18Ter), TOPMed rs1321226370
- K18N (p.Lys18Asn), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, ESM-1b 1.00, AlphaMissense 0.52, Variant assessed as somatic; moderate impact.
- K18K (p.Lys18Lys), gnomAD 11-5234380-T-C, CADD 3.77
- K18Q (p.Lys18Gln), gnomAD 11-5234383-G-GC, CADD 18.70
- V19G (p.Val19Gly), TOPMed rs1348919923, REVEL 0.73, ESM-1b 1.00
- V19V (p.Val19Val), gnomAD 11-5234377-C-T, CADD 0.85
- V19A (p.Val19Ala), gnomAD 11-5234378-A-G, REVEL 0.66, ESM-1b 0.40
- V19L (p.Val19Leu), gnomAD 11-5234379-C-A, REVEL 0.60, ESM-1b 0.00
- V19M (p.Val19Met), gnomAD 11-5234379-C-T, REVEL 0.51, ESM-1b 1.00
- N20N (p.Asn20Asn), rs777991732, gnomAD 11-5234374-G-A, CADD 0.03
- N20S (p.Asn20Ser), gnomAD 11-5234375-T-C, REVEL 0.35, ESM-1b 0.00
- V21A (p.Val21Ala), ExAC rs34093840, gnomAD rs34093840, REVEL 0.53, ESM-1b 0.54
- V21E (p.Val21Glu), rs34093840, ClinGen CA124657, ClinVar RCV000016201, UniProt VAR 003100, ESM-1b 1.00, AlphaMissense 0.60, other, HEMOGLOBIN A(2) ROOSEVELT
- V21M (p.Val21Met), cosmic curated COSV53083, 1000Genomes rs369305779, ESP rs369305779, ExAC rs369305779, REVEL 0.56, ESM-1b 1.00
- D22G (p.Asp22Gly), gnomAD 11-5234369-T-C, REVEL 0.57, ESM-1b 0.04
- A23E (p.Ala23Glu), rs35395083, ClinGen CA124645, ClinVar RCV000016193, ClinVar RCV000016194, REVEL 0.50, ESM-1b 0.00, other, HEMOGLOBIN A(2) FLATBUSH; HEMOGLOBIN FLATBUSH (GEORGIA)
- A23A (p.Ala23Ala), rs1227500842, gnomAD 11-5234365-T-G, CADD 8.06
- A23T (p.Ala23Thr), gnomAD 11-5234367-C-T, REVEL 0.52, ESM-1b 0.00
- V24I (p.Val24Ile), TOPMed rs1847713992, ESM-1b 0.43, AlphaMissense 0.09
- V24A (p.Val24Ala), gnomAD 11-5234363-A-G, REVEL 0.56, ESM-1b 0.60
- G25D (p.Gly25Asp), rs34460332, ClinGen CA124661, cosmic curated COSV10462, ClinVar RCV000016203, REVEL 0.79, ESM-1b 1.00, other, HEMOGLOBIN A(2) VICTORIA
- G25R (p.Gly25Arg), Ensembl rs780686206, ESM-1b 1.00, AlphaMissense 0.99
- G25G (p.Gly25Gly), gnomAD 11-5234359-A-G, CADD 7.51
- G26C (p.Gly26Cys), Ensembl rs886048395, REVEL 0.48, ESM-1b 0.69, Uncertain significance, in Yokoshima
- G26D (p.Gly26Asp), rs34389944, ClinGen CA124665, ClinVar RCV000016205, UniProt VAR 003103, REVEL 0.58, ESM-1b 1.00, other, HEMOGLOBIN A(2) YOKOSHIMA
- G26S (p.Gly26Ser), rs886048395, ClinGen CA10631039, ClinVar RCV000283247, Ensembl rs886048395, REVEL 0.54, ESM-1b 0.00, Uncertain significance, Fetal hemoglobin quantitative trait locus 1
- G26V (p.Gly26Val), NCI-TCGA Cosmic COSV9949, cosmic curated COSV99496, REVEL 0.54, ESM-1b 0.62, Variant assessed as somatic; moderate impact., in Yokoshima
- E27D (p.Glu27Asp), rs34289459, NCI-TCGA Cosmic COSV9949, cosmic curated COSV99496, ClinGen CA124689, REVEL 0.60, ESM-1b 0.00, other, HEMOGLOBIN A(2) PUGLIA
- E27K (p.Glu27Lys), Ensembl rs2133596626, ESM-1b 1.00, AlphaMissense 0.70
- E27E (p.Glu27Glu), rs34289459, gnomAD 11-5234353-C-T, CADD 5.08
- A28D (p.Ala28Asp), rs751533248, ClinGen CA5839991, ClinVar RCV001107108, ExAC rs751533248, REVEL 0.87, ESM-1b 1.00, Uncertain significance, Fetal hemoglobin quantitative trait locus 1
- A28S (p.Ala28Ser), rs35152987, ClinGen CA124682, ClinVar RCV000016221, ClinVar RCV000016222, REVEL 0.64, ESM-1b 1.00, Conflicting interpretations, not provided; Fetal hemoglobin quantitative trait locus 1; Thalassemia
- A28T (p.Ala28Thr), 1000Genomes rs35152987, ESP rs35152987, ExAC rs35152987, TOPMed rs35152987, REVEL 0.59, ESM-1b 0.25, Pathogenic, in Yialousa
- L29L (p.Leu29Leu), rs1226367010, gnomAD 11-5234347-C-A, CADD 9.10
- G30V (p.Gly30Val), TOPMed rs1289490807, REVEL 0.65, ESM-1b 1.00
- G30G (p.Gly30Gly), rs1223305519, gnomAD 11-5234344-G-A, CADD 23.30
- R31K (p.Arg31Lys), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, ESM-1b 1.00, AlphaMissense 0.75, Variant assessed as somatic; moderate impact.
- R31T (p.Arg31Thr), rs35654785, ClinGen CA124684, ClinVar RCV000016223, Ensembl rs35654785, ESM-1b 1.00, AlphaMissense 0.91, Pathogenic, delta Thalassemia
- L32F (p.Leu32Phe), gnomAD 11-5234210-T-A, REVEL 0.54, ESM-1b 0.34
- L32L (p.Leu32Leu), gnomAD 11-5234212-A-G, CADD 7.39
- L33M (p.Leu33Met), gnomAD rs746437742, ESM-1b 1.00, AlphaMissense 0.47, Uncertain significance
- L33L (p.Leu33Leu), rs746437742, gnomAD 11-5234209-G-A, CADD 6.17
- V34G (p.Val34Gly), gnomAD rs1208827901, REVEL 0.58, ESM-1b 1.00
- V34V (p.Val34Val), rs1389454136, gnomAD 11-5234204-C-A, CADD 0.11
- V34M (p.Val34Met), gnomAD 11-5234206-C-T, REVEL 0.54, ESM-1b 1.00
- V35D (p.Val35Asp), rs2494308091, ClinGen CA379277141, ClinVar RCV004200993, REVEL 0.81, ESM-1b 1.00, Uncertain significance, not specified
- V35F (p.Val35Phe), gnomAD rs1353865087, REVEL 0.75, ESM-1b 1.00
- V35V (p.Val35Val), gnomAD 11-5234201-G-T, CADD 2.60
- Y36Y (p.Tyr36Tyr), rs1847709552, gnomAD 11-5234198-G-A, CADD 5.30
- P37H (p.Pro37His), rs34383555, ClinGen CA124699, cosmic curated COSV53082, ClinVar RCV000016233, ESM-1b 1.00, AlphaMissense 0.93, other, HEMOGLOBIN A(2) METAPONTO
- P37S (p.Pro37Ser), TOPMed rs1409273019, gnomAD rs1409273019, REVEL 0.86, ESM-1b 1.00
- P37P (p.Pro37Pro), rs1160976374, gnomAD 11-5234195-A-T, CADD 2.24
- P37L (p.Pro37Leu), gnomAD 11-5234196-G-A, REVEL 0.85, ESM-1b 1.00
- P37T (p.Pro37Thr), gnomAD 11-5234197-G-T, REVEL 0.82, ESM-1b 1.00
- W38* (p.Trp38Ter), TOPMed rs1456294062, CADD 37.00, Pathogenic
- W38C (p.Trp38Cys), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, REVEL 0.63, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- W38S (p.Trp38Ser), gnomAD rs35887507, REVEL 0.61, ESM-1b 1.00, Pathogenic
- W38R (p.Trp38Arg), gnomAD 11-5234194-A-G, REVEL 0.45, ESM-1b 1.00
- T39A (p.Thr39Ala), gnomAD 11-5234191-T-C, REVEL 0.86, ESM-1b 0.00
- Q40H (p.Gln40His), rs281864505, NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, Ensembl rs281864505, ESM-1b 1.00, AlphaMissense 0.94, Variant assessed as somatic; moderate impact.
- Q40K (p.Gln40Lys), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, ESM-1b 0.00, AlphaMissense 0.32, Variant assessed as somatic; moderate impact.
- R41K (p.Arg41Lys), cosmic curated COSV53082, TOPMed rs1240307704, gnomAD rs1240307704, REVEL 0.75, ESM-1b 0.02
- R41M (p.Arg41Met), TOPMed rs1240307704, gnomAD rs1240307704, REVEL 0.87, ESM-1b 1.00
- R41T (p.Arg41Thr), gnomAD 11-5234184-C-G, REVEL 0.81, ESM-1b 1.00
- F42L (p.Phe42Leu), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.99, Variant assessed as somatic; moderate impact.
- F43L (p.Phe43Leu), gnomAD rs1463947121, REVEL 0.88, ESM-1b 1.00
- F43S (p.Phe43Ser), ExAC rs755109846, gnomAD rs755109846, REVEL 0.93, ESM-1b 1.00
- F43Y (p.Phe43Tyr), ExAC rs755109846, gnomAD rs755109846, REVEL 0.87, ESM-1b 1.00
- F43F (p.Phe43Phe), rs1463947121, gnomAD 11-5234177-A-G, CADD 8.44
- E44G (p.Glu44Gly), rs36084266, ClinGen CA124695, ClinVar RCV000016231, UniProt VAR 003106, REVEL 0.60, ESM-1b 0.00, other, HEMOGLOBIN A(2) AGRINIO
- E44K (p.Glu44Lys), rs35166721, ClinGen CA124653, ClinVar RCV000016198, UniProt VAR 003107, ESM-1b 0.00, AlphaMissense 0.52, other, HEMOGLOBIN A(2) MELBOURNE
- E44E (p.Glu44Glu), gnomAD 11-5234174-C-T, CADD 1.04
- E44Q (p.Glu44Gln), gnomAD 11-5234176-C-G, REVEL 0.53, ESM-1b 0.63
- S45F (p.Ser45Phe), rs747164859, NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, ExAC rs747164859, REVEL 0.63, ESM-1b 1.00, Uncertain significance, not specified
- S45T (p.Ser45Thr), gnomAD rs1306903271, REVEL 0.55, ESM-1b 0.00
- S45Y (p.Ser45Tyr), ExAC rs747164859, TOPMed rs747164859, gnomAD rs747164859, REVEL 0.63, ESM-1b 1.00
- S45C (p.Ser45Cys), rs142519583, gnomAD 11-5233090-G-C, REVEL 0.20, ESM-1b 1.00
- G47V (p.Gly47Val), Ensembl rs200264296, ESM-1b 1.00, AlphaMissense 0.97
- G47W (p.Gly47Trp), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.99, Variant assessed as somatic; high impact.
- G47G (p.Gly47Gly), rs780252589, gnomAD 11-5234165-C-A, CADD 5.95
- G47E (p.Gly47Glu), gnomAD 11-5234166-C-T, REVEL 0.93, ESM-1b 1.00
- D48E (p.Asp48Glu), ExAC rs758478152, gnomAD rs758478152, REVEL 0.61, ESM-1b 0.21
- D48N (p.Asp48Asn), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, NCI-TCGA Cosmic COSV9949, ESM-1b 0.00, AlphaMissense 0.13, Variant assessed as somatic; moderate impact., in Parkville
- D48V (p.Asp48Val), rs34977235, ClinGen CA124677, ClinVar RCV000016218, UniProt VAR 003108, ESM-1b 1.00, AlphaMissense 0.63, other, HEMOGLOBIN A(2) PARKVILLE
- D48Y (p.Asp48Tyr), NCI-TCGA Cosmic COSV5308, NCI-TCGA Cosmic COSV9949, cosmic curated COSV99496, ESM-1b 1.00, AlphaMissense 0.66, Variant assessed as somatic; moderate impact., in Parkville
- D48D (p.Asp48Asp), rs758478152, gnomAD 11-5234162-A-G, CADD 8.62
- L49V (p.Leu49Val), ExAC rs750372909, gnomAD rs750372909, ESM-1b 0.75, AlphaMissense 0.21
- L49P (p.Leu49Pro), rs1564878593, gnomAD 11-5233021-A-G, REVEL 0.24, ESM-1b 1.00
- L49L (p.Leu49Leu), rs905938293, gnomAD 11-5234159-C-A, CADD 6.90
- S50* (p.Ser50Ter), rs1187986074, gnomAD 11-5233039-G-C, CADD 22.30, SIFT 0.01
- S50S (p.Ser50Ser), gnomAD 11-5234156-G-A, CADD 9.13
- S50F (p.Ser50Phe), gnomAD 11-5234157-G-A, REVEL 0.79, ESM-1b 1.00
- S50P (p.Ser50Pro), gnomAD 11-5234158-A-G, REVEL 0.83, ESM-1b 0.00
- S51F (p.Ser51Phe), Ensembl rs1589897715, ESM-1b 1.00, AlphaMissense 0.65
- S51T (p.Ser51Thr), cosmic curated COSV53083, ExAC rs778926249, gnomAD rs778926249, REVEL 0.44, ESM-1b 0.00
- P52A (p.Pro52Ala), gnomAD rs1160528495, REVEL 0.49, ESM-1b 0.00
- P52R (p.Pro52Arg), rs34489183, ClinGen CA124635, ClinVar RCV000016188, UniProt VAR 003109, ESM-1b 1.00, AlphaMissense 0.33, other, HEMOGLOBIN A(2) ADRIA
- P52S (p.Pro52Ser), rs1160528495, NCI-TCGA Cosmic COSV5308, cosmic curated COSV53082, gnomAD rs1160528495, REVEL 0.42, ESM-1b 0.41, Variant assessed as somatic; moderate impact., in Adria
- P52P (p.Pro52Pro), rs777280570, gnomAD 11-5234150-A-T, CADD 5.63
- P52L (p.Pro52Leu), gnomAD 11-5234151-G-A, REVEL 0.38, ESM-1b 1.00
- D53E (p.Asp53Glu), ExAC rs757106601, gnomAD rs757106601, REVEL 0.40, ESM-1b 0.00
- D53H (p.Asp53His), gnomAD rs281864511, REVEL 0.80, ESM-1b 0.18
- D53N (p.Asp53Asn), gnomAD rs281864511, REVEL 0.41, ESM-1b 0.00
- D53D (p.Asp53Asp), gnomAD 11-5234147-A-G, CADD 9.63
- D53V (p.Asp53Val), gnomAD 11-5234148-T-A, REVEL 0.63, ESM-1b 0.00
- A54T (p.Ala54Thr), cosmic curated COSV53082, TOPMed rs1847708222, REVEL 0.80, ESM-1b 1.00
- A54E (p.Ala54Glu), gnomAD 11-5233048-G-T, REVEL 0.25, ESM-1b 1.00
- A54G (p.Ala54Gly), gnomAD 11-5233057-G-C, REVEL 0.17, ESM-1b 1.00
- A54V (p.Ala54Val), gnomAD 11-5233057-G-A, REVEL 0.21, ESM-1b 1.00
- A54A (p.Ala54Ala), gnomAD 11-5234144-A-G, CADD 7.89
- V55L (p.Val55Leu), rs1177265316, ClinGen CA379277021, ClinVar RCV004249216, TOPMed rs1177265316, REVEL 0.57, ESM-1b 0.00, Uncertain significance, not specified
- V55A (p.Val55Ala), gnomAD 11-5234142-A-G, REVEL 0.51, ESM-1b 0.00
- V55I (p.Val55Ile), gnomAD 11-5234143-C-T, REVEL 0.55, ESM-1b 0.00
- M56T (p.Met56Thr), TOPMed rs1847708099, ESM-1b 1.00, AlphaMissense 0.42
- M56I (p.Met56Ile), gnomAD 11-5234138-C-T, REVEL 0.54, ESM-1b 1.00
- G57A (p.Gly57Ala), cosmic curated COSV53081, TOPMed rs1041812657, gnomAD rs1041812657, REVEL 0.55, ESM-1b 0.71
- G57D (p.Gly57Asp), TOPMed rs1041812657, gnomAD rs1041812657, REVEL 0.61, ESM-1b 1.00
- G57S (p.Gly57Ser), ExAC rs753525863, TOPMed rs753525863, gnomAD rs753525863, REVEL 0.48, ESM-1b 1.00
- G57G (p.Gly57Gly), gnomAD 11-5234135-G-A, CADD 7.91
- N58K (p.Asn58Lys), rs35666685, ClinGen CA124701, ClinVar RCV000016234, UniProt VAR 030503, REVEL 0.57, ESM-1b 1.00, other, HEMOGLOBIN A(2) CAMPANIA
- N58T (p.Asn58Thr), NCI-TCGA Cosmic COSV5308, cosmic curated COSV53083, REVEL 0.76, ESM-1b 1.00, Variant assessed as somatic; moderate impact., in Campania
- N58N (p.Asn58Asn), rs35666685, gnomAD 11-5234132-G-A, CADD 0.73
- N58S (p.Asn58Ser), gnomAD 11-5234133-T-C, REVEL 0.67, ESM-1b 0.45
- P59R (p.Pro59Arg), rs757876158, gnomAD 11-5232985-G-C, REVEL 0.22, ESM-1b 1.00
- P59L (p.Pro59Leu), rs756655365, gnomAD 11-5233018-G-A, REVEL 0.17, ESM-1b 1.00
- P59A (p.Pro59Ala), gnomAD 11-5234131-G-C, REVEL 0.39, ESM-1b 0.00
Public HBD analysis runs
- HBD analysis run — HBD (475 variants) — completed 2026-06-08