CD4 (T-cell surface glycoprotein CD4) variants and mutations
CD4 (also known as T-cell surface glycoprotein CD4) is a human protein-coding gene encoding a t-cell surface glycoprotein protein. It acts as a coreceptor for MHC class II recognition and helps recruit LCK to amplify antigen-receptor signaling in helper T cells. It is also the primary cellular receptor used by HIV for entry into susceptible immune cells. This analysis covers 712 CD4 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes HIV infectious disease, immunodeficiency 79, and Okt4 epitope deficiency. Example CD4 variants include M1V, N2S, and N2T.
Variant analysis overview
- Gene: CD4
- Protein: T-cell surface glycoprotein CD4
- UniProt accession: P01730
- Organism: Homo sapiens
- Variants analyzed: 712
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 512 unspecified-consequence records; 87 missense variants; 84 synonymous variants; 18 frameshift variants; 1 splice-region variants; 5 in-frame deletions; 5 stop-gained variants
- Prediction scores: 680 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: HIV infectious disease, immunodeficiency 79, Okt4 epitope deficiency, HIV-1 infection, viral infectious disease, neurodegenerative disease, lymphoma, mycosis fungoides, Sezary syndrome, rheumatoid arthritis, mature T-cell and NK-cell non-Hodgkin lymphoma, angioimmunoblastic T-cell lymphoma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 4 domains; 5 post-translational modification sites.
- Structural context: 560 variants have structural context.
- PTM context: 8 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 CD4 variants
Examples include M1V, N2S, N2T, N2I, R3L, R3Q, R3W, R3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs200294737, ClinGen CA6415649, ClinVar RCV001353065, MetaLR 0.26, MetaSVM -0.57, Pathogenic, Immunodeficiency 79
- N2S (p.Asn2Ser), TOPMed rs1555114961, gnomAD rs1555114961, REVEL 0.00, MetaLR 0.11
- N2T (p.Asn2Thr), TOPMed rs1555114961, gnomAD rs1555114961, REVEL 0.03, MetaLR 0.11
- N2I (p.Asn2Ile), gnomAD 12-6800143-A-T, REVEL 0.04, MetaLR 0.14
- R3L (p.Arg3Leu), ExAC rs782252955, TOPMed rs782252955, gnomAD rs782252955, MetaLR 0.11, MetaSVM -1.06
- R3Q (p.Arg3Gln), ExAC rs782252955, TOPMed rs782252955, gnomAD rs782252955, REVEL 0.05, MetaLR 0.07
- R3W (p.Arg3Trp), rs201040272, NCI-TCGA Cosmic COSV5059, cosmic curated COSV50596, 1000Genomes rs201040272, REVEL 0.22, MetaLR 0.13, Variant assessed as somatic; moderate impact.
- R3R (p.Arg3Arg), rs377361025, gnomAD 12-6800147-G-A, CADD 1.51
- G4E (p.Gly4Glu), cosmic curated COSV10608, 1000Genomes rs142478992, ESP rs142478992, ExAC rs142478992, REVEL 0.17, MetaLR 0.15
- G4R (p.Gly4Arg), ExAC rs782148933, MetaLR 0.15, MetaSVM -1.03
- V5D (p.Val5Asp), Ensembl rs1591546925, MetaLR 0.08, MetaSVM -0.99
- V5I (p.Val5Ile), TOPMed rs1418791491, gnomAD rs1418791491, REVEL 0.03, MetaLR 0.03
- P6P (p.Pro6Pro), rs781935284, gnomAD 12-6800156-T-C, CADD 3.61
- F7C (p.Phe7Cys), TOPMed rs1164548089, REVEL 0.16, MetaLR 0.28
- F7L (p.Phe7Leu), gnomAD 12-6800155-CT-C, CADD 14.00
- F7F (p.Phe7Phe), gnomAD 12-6800159-T-C, CADD 0.17
- R8W (p.Arg8Trp), Ensembl rs1942496138, REVEL 0.21, MetaLR 0.14
- R8K (p.Arg8Lys), rs1942496285, gnomAD 12-6800159-T-TA, CADD 8.47
- R8S (p.Arg8Ser), gnomAD 12-6800162-G-T, REVEL 0.12, MetaLR 0.17
- R8R (p.Arg8Arg), gnomAD 12-6800162-G-A, CADD 3.70
- H9L (p.His9Leu), gnomAD rs1555114972, REVEL 0.17, MetaLR 0.14
- H9H (p.His9His), gnomAD 12-6800165-C-T, CADD 1.75
- L10F (p.Leu10Phe), ESP rs151325091, ExAC rs151325091, TOPMed rs151325091, gnomAD rs151325091, REVEL 0.22, MetaLR 0.32
- L12L (p.Leu12Leu), rs1555114974, gnomAD 12-6800174-G-T, CADD 7.93
- V13A (p.Val13Ala), 1000Genomes rs144413418, ESP rs144413418, ExAC rs144413418, TOPMed rs144413418, REVEL 0.11, MetaLR 0.11
- V13L (p.Val13Leu), NCI-TCGA Cosmic COSV9916, cosmic curated COSV99163, MetaLR 0.07, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- V13M (p.Val13Met), gnomAD 12-6800175-G-A, REVEL 0.06, MetaLR 0.10
- V13V (p.Val13Val), rs1942496993, gnomAD 12-6800177-G-A, CADD 8.68
- L14M (p.Leu14Met), rs1555114978, NCI-TCGA Cosmic COSV9916, cosmic curated COSV99163, gnomAD rs1555114978, AlphaMissense 0.19, MetaLR 0.35, Variant assessed as somatic; moderate impact.
- L14P (p.Leu14Pro), gnomAD 12-6800179-T-C, REVEL 0.57, MetaLR 0.38
- L14L (p.Leu14Leu), rs960429527, gnomAD 12-6800180-G-A, CADD 7.49
- Q15E (p.Gln15Glu), ExAC rs781864508, gnomAD rs781864508, REVEL 0.09, MetaLR 0.13
- Q15H (p.Gln15His), 1000Genomes rs552669070, ExAC rs552669070, gnomAD rs552669070, MetaLR 0.10, MetaSVM -1.01
- Q15Q (p.Gln15Gln), rs552669070, gnomAD 12-6800183-A-G, CADD 2.34
- L16M (p.Leu16Met), NCI-TCGA Cosmic COSV9916, cosmic curated COSV99163, MetaLR 0.20, MetaSVM -0.93, Variant assessed as somatic; moderate impact.
- L16L (p.Leu16Leu), gnomAD 12-6800184-C-T, CADD 6.00
- A17T (p.Ala17Thr), NCI-TCGA TCGA novel, MetaLR 0.23, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- A17V (p.Ala17Val), rs199744985, ExAC rs199744985, TOPMed rs199744985, gnomAD rs199744985, REVEL 0.03, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- A17A (p.Ala17Ala), rs146686851, gnomAD 12-6800308-G-C, CADD 0.06
- L18P (p.Leu18Pro), Ensembl rs1591547179, REVEL 0.17, MetaLR 0.13
- L18F (p.Leu18Phe), gnomAD 12-6800309-C-T, REVEL 0.04, MetaLR 0.08
- L19P (p.Leu19Pro), Ensembl rs1591547189, MetaLR 0.15, MetaSVM -0.98
- L19V (p.Leu19Val), Ensembl rs1942505904, REVEL 0.11, MetaLR 0.11
- L19F (p.Leu19Phe), gnomAD 12-6800312-C-T, REVEL 0.14, MetaLR 0.14
- L19H (p.Leu19His), gnomAD 12-6800313-T-A, REVEL 0.15, MetaLR 0.15
- P20Q (p.Pro20Gln), TOPMed rs1206040492
- P20S (p.Pro20Ser), TOPMed rs1555115033, gnomAD rs1555115033, MetaLR 0.05, MetaSVM -1.04
- P20T (p.Pro20Thr), TOPMed rs1555115033, gnomAD rs1555115033, REVEL 0.05, MetaLR 0.05
- P20A (p.Pro20Ala), gnomAD 12-6800315-C-G, REVEL 0.05, MetaLR 0.05
- P20P (p.Pro20Pro), rs1942506264, gnomAD 12-6800317-A-T, CADD 1.20
- A21G (p.Ala21Gly), TOPMed rs893226381, REVEL 0.06, MetaLR 0.10
- A21P (p.Ala21Pro), Ensembl rs1591547198
- A21T (p.Ala21Thr), Ensembl rs1591547198
- A21V (p.Ala21Val), TOPMed rs893226381, MetaLR 0.05, MetaSVM -1.02
- A21E (p.Ala21Glu), gnomAD 12-6800319-C-A, REVEL 0.07, MetaLR 0.11
- A22D (p.Ala22Asp), Ensembl rs1942506542
- A22T (p.Ala22Thr), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- A22A (p.Ala22Ala), gnomAD 12-6800323-C-G, CADD 2.76
- T23S (p.Thr23Ser), TOPMed rs1237234163, gnomAD rs1237234163, REVEL 0.09, MetaLR 0.12
- Q24H (p.Gln24His), NCI-TCGA Cosmic COSV5059, MetaLR 0.18, MetaSVM -1.00, Variant assessed as somatic; moderate impact.
- Q24R (p.Gln24Arg), TOPMed rs1942506692, gnomAD rs1942506692, REVEL 0.13, MetaLR 0.16
- G25E (p.Gly25Glu), 1000Genomes rs202129605, ExAC rs202129605, TOPMed rs202129605, gnomAD rs202129605, REVEL 0.28, MetaLR 0.24
- K26R (p.Lys26Arg), gnomAD 12-6800331-GA-G, CADD 6.50
- V28A (p.Val28Ala), gnomAD rs1555115042, REVEL 0.16, MetaLR 0.34
- V28M (p.Val28Met), gnomAD rs1555115041, REVEL 0.20, MetaLR 0.37
- p.Val28 Gly31del, gnomAD 12-6800338-AGTGGT, CADD 13.60
- V28E (p.Val28Glu), rs1555115043, gnomAD 12-6800339-GTGGTG, CADD 23.50
- V29K (p.Val29Lys), gnomAD 12-6800340-TGGTGC, CADD 23.20
- p.Val29 Gly31del, rs1555115044, gnomAD 12-6800341-GGTGCT, CADD 13.00
- V29M (p.Val29Met), gnomAD 12-6800342-G-A, REVEL 0.36, MetaLR 0.45
- V29E (p.Val29Glu), gnomAD 12-6800342-GTGCTG, CADD 23.20
- G31S (p.Gly31Ser), ExAC rs782457345, gnomAD rs782457345, REVEL 0.26, MetaLR 0.41
- G31G (p.Gly31Gly), rs782602611, gnomAD 12-6800350-C-T, CADD 4.53
- K32I (p.Lys32Ile), ExAC rs782235609, TOPMed rs782235609, gnomAD rs782235609, REVEL 0.24, MetaLR 0.39
- K32Q (p.Lys32Gln), TOPMed rs1555115050, gnomAD rs1555115050, MetaLR 0.13, MetaSVM -1.01
- K32R (p.Lys32Arg), ExAC rs782235609, TOPMed rs782235609, gnomAD rs782235609, REVEL 0.12, MetaLR 0.25
- K33* (p.Lys33Ter), NCI-TCGA Cosmic COSV5058, Variant assessed as somatic; high impact.
- K33I (p.Lys33Ile), NCI-TCGA Cosmic COSV5058, MetaLR 0.12, MetaSVM -0.98, Variant assessed as somatic; moderate impact.
- K33N (p.Lys33Asn), gnomAD 12-6800356-A-T, REVEL 0.09, MetaLR 0.21
- G34E (p.Gly34Glu), gnomAD 12-6800358-G-A, REVEL 0.34, MetaLR 0.66
- D35E (p.Asp35Glu), Ensembl rs797039036
- D35I (p.Asp35Ile), NCI-TCGA Cosmic COSV5059, NCI-TCGA TCGA novel, MetaLR 0.22, MetaSVM -0.92, Variant assessed as somatic; high impact.
- D35N (p.Asp35Asn), TOPMed rs1328368781, REVEL 0.05, MetaLR 0.22
- D35V (p.Asp35Val), rs1555115051, gnomAD 12-6800360-GA-G, CADD 7.73
- D35G (p.Asp35Gly), gnomAD 12-6800361-A-G, REVEL 0.13, MetaLR 0.10
- T36A (p.Thr36Ala), TOPMed rs1942507992, MetaLR 0.17, MetaSVM -0.98
- T36R (p.Thr36Arg), gnomAD 12-6800364-C-G, REVEL 0.22, MetaLR 0.17
- T36I (p.Thr36Ile), gnomAD 12-6800364-C-T, REVEL 0.15, MetaLR 0.16
- T36T (p.Thr36Thr), rs782517082, gnomAD 12-6800365-A-G, CADD 0.11
- V37A (p.Val37Ala), gnomAD 12-6800367-T-C, REVEL 0.33, MetaLR 0.25
- L39P (p.Leu39Pro), ExAC rs782647911, gnomAD rs782647911, REVEL 0.73, MetaLR 0.69
- T40I (p.Thr40Ile), gnomAD 12-6800376-C-T, REVEL 0.22, MetaLR 0.22
- C41Y (p.Cys41Tyr), gnomAD 12-6800379-G-A, REVEL 0.68, MetaLR 0.70
- C41C (p.Cys41Cys), gnomAD 12-6800380-T-C, CADD 2.58
- T42A (p.Thr42Ala), TOPMed rs1555115053, gnomAD rs1555115053, REVEL 0.12, MetaLR 0.14
- T42I (p.Thr42Ile), Ensembl rs1319281339, MetaLR 0.15, MetaSVM -0.98
- T42T (p.Thr42Thr), rs1555115055, gnomAD 12-6800383-A-G, CADD 0.07
- A43D (p.Ala43Asp), TOPMed rs1359736886, MetaLR 0.26, MetaSVM -0.87
- A43P (p.Ala43Pro), TOPMed rs1401043905, gnomAD rs1401043905, REVEL 0.24, MetaLR 0.22
- A43A (p.Ala43Ala), gnomAD 12-6800386-T-C, CADD 2.63
- S44Y (p.Ser44Tyr), gnomAD rs1555115061
- S44C (p.Ser44Cys), gnomAD 12-6800388-C-G, REVEL 0.40, MetaLR 0.53
- S44S (p.Ser44Ser), rs782280366, gnomAD 12-6800389-C-G, CADD 0.62
- Q45R (p.Gln45Arg), ExAC rs374341894, gnomAD rs374341894, REVEL 0.11, MetaLR 0.21
- Q45E (p.Gln45Glu), gnomAD 12-6800390-C-G, REVEL 0.10, MetaLR 0.17
- K46N (p.Lys46Asn), NCI-TCGA TCGA novel, MetaLR 0.18, MetaSVM -0.91, Variant assessed as somatic; moderate impact.
- K46R (p.Lys46Arg), gnomAD 12-6800394-A-G, REVEL 0.05, MetaLR 0.21
- K47N (p.Lys47Asn), ESP rs201647213, ExAC rs201647213, TOPMed rs201647213, gnomAD rs201647213, REVEL 0.09, MetaLR 0.24
- K47del (p.Lys47del), rs571941158, gnomAD 12-6800390-CAGA-C, CADD 4.40
- K47R (p.Lys47Arg), gnomAD 12-6800397-A-G, REVEL 0.06, MetaLR 0.15
- K47K (p.Lys47Lys), rs201647213, gnomAD 12-6800398-G-A, CADD 2.39
- S48I (p.Ser48Ile), NCI-TCGA TCGA novel, MetaLR 0.10, MetaSVM -1.00, Variant assessed as somatic; moderate impact.
- S48S (p.Ser48Ser), rs1555115066, gnomAD 12-6800401-C-T, CADD 1.05
- I49L (p.Ile49Leu), TOPMed rs1395619777, MetaLR 0.06, MetaSVM -1.00
- I49M (p.Ile49Met), TOPMed rs903424784, gnomAD rs903424784, REVEL 0.19, MetaLR 0.09
- I49T (p.Ile49Thr), TOPMed rs1942509499, gnomAD rs1942509499, REVEL 0.30, MetaLR 0.09
- I49V (p.Ile49Val), gnomAD 12-6800402-A-G, REVEL 0.08, MetaLR 0.06
- I49I (p.Ile49Ile), gnomAD 12-6800404-A-C, CADD 0.78
- Q50* (p.Gln50Ter), ESP rs372831240, ExAC rs372831240, gnomAD rs372831240, CADD 19.80
- Q50H (p.Gln50His), gnomAD 12-6800407-A-T, REVEL 0.18, MetaLR 0.16
- Q50Q (p.Gln50Gln), rs782337435, gnomAD 12-6800407-A-G, CADD 0.73
- F51L (p.Phe51Leu), gnomAD 12-6800408-T-C, REVEL 0.30, MetaLR 0.30
- F51S (p.Phe51Ser), gnomAD 12-6800409-T-C, REVEL 0.38, MetaLR 0.41
- H52Y (p.His52Tyr), NCI-TCGA Cosmic COSV5059, NCI-TCGA Cosmic COSV9916, MetaLR 0.20, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- W53* (p.Trp53Ter), ExAC rs781961383, gnomAD rs781961383, CADD 36.00
- K54R (p.Lys54Arg), ExAC rs782107070, TOPMed rs782107070, gnomAD rs782107070, REVEL 0.24, MetaLR 0.33
- N55H (p.Asn55His), gnomAD rs1555115071, REVEL 0.07, MetaLR 0.09
- N55I (p.Asn55Ile), gnomAD 12-6800421-A-T, REVEL 0.14, MetaLR 0.18
- N55S (p.Asn55Ser), gnomAD 12-6800421-A-G, REVEL 0.05, MetaLR 0.12
- S56F (p.Ser56Phe), NCI-TCGA Cosmic COSV5058, Variant assessed as somatic; moderate impact.
- S56T (p.Ser56Thr), ExAC rs782791509, gnomAD rs782791509, REVEL 0.15, MetaLR 0.23
- N57D (p.Asn57Asp), gnomAD rs1555115073, REVEL 0.05, MetaLR 0.07
- N57N (p.Asn57Asn), rs782014370, gnomAD 12-6800428-C-T, CADD 2.00
- Q58H (p.Gln58His), gnomAD rs1555115076, REVEL 0.09, MetaLR 0.30
- Q58R (p.Gln58Arg), NCI-TCGA TCGA novel, MetaLR 0.18, MetaSVM -1.08, Variant assessed as somatic; high impact.
- I59K (p.Ile59Lys), TOPMed rs199890832, gnomAD rs199890832, REVEL 0.05, MetaLR 0.03
- I59T (p.Ile59Thr), TOPMed rs199890832, gnomAD rs199890832, MetaLR 0.02, MetaSVM -1.00
- I59Y (p.Ile59Tyr), gnomAD 12-6800431-G-GT, CADD 14.00
- I59L (p.Ile59Leu), gnomAD 12-6800432-A-T, REVEL 0.02, MetaLR 0.04
- I59V (p.Ile59Val), gnomAD 12-6800432-A-G, REVEL 0.02, MetaLR 0.03
- I59M (p.Ile59Met), gnomAD 12-6800434-A-G, REVEL 0.03, MetaLR 0.05
- I61T (p.Ile61Thr), gnomAD rs1555115080, REVEL 0.33, MetaLR 0.17
- L62L (p.Leu62Leu), rs35259686, gnomAD 12-6800441-C-T, CADD 3.04
- G63R (p.Gly63Arg), TOPMed rs1942510525, REVEL 0.27, MetaLR 0.32
- G63G (p.Gly63Gly), rs1555115086, gnomAD 12-6800446-A-G, CADD 0.19
- N64H (p.Asn64His), Ensembl rs1942510688, MetaLR 0.22, MetaSVM -0.83
- N64K (p.Asn64Lys), ExAC rs782714692, gnomAD rs782714692, REVEL 0.07, MetaLR 0.11
- N64T (p.Asn64Thr), gnomAD 12-6800448-A-C, REVEL 0.09, MetaLR 0.14
- Q65R (p.Gln65Arg), ESP rs201991979, ExAC rs201991979, TOPMed rs201991979, gnomAD rs201991979, REVEL 0.17, MetaLR 0.29
- Q65* (p.Gln65Ter), gnomAD 12-6800450-C-T, CADD 29.50
- G66V (p.Gly66Val), gnomAD rs1555115088, REVEL 0.22, MetaLR 0.28
- G66S (p.Gly66Ser), gnomAD 12-6800453-G-A, REVEL 0.17, MetaLR 0.15
- G66G (p.Gly66Gly), rs782102919, gnomAD 12-6800455-C-T, CADD 3.10
- F68L (p.Phe68Leu), gnomAD 12-6800461-C-A, REVEL 0.08, MetaLR 0.11
- T70I (p.Thr70Ile), TOPMed rs1280265139
- T70N (p.Thr70Asn), TOPMed rs1280265139, MetaLR 0.23, MetaSVM -0.83
- K71N (p.Lys71Asn), gnomAD 12-6800470-A-C, REVEL 0.36, MetaLR 0.36
- G72C (p.Gly72Cys), NCI-TCGA Cosmic COSV9916, MetaLR 0.48, MetaSVM -0.00, Variant assessed as somatic; moderate impact.
- S74P (p.Ser74Pro), gnomAD 12-6814147-T-C, REVEL 0.09, MetaLR 0.33
- S74S (p.Ser74Ser), gnomAD 12-6814149-C-T, CADD 1.90
- K75E (p.Lys75Glu), gnomAD 12-6814150-A-G, REVEL 0.07, MetaLR 0.12
- K75N (p.Lys75Asn), gnomAD 12-6814152-G-C, REVEL 0.13, MetaLR 0.17
- L76L (p.Leu76Leu), gnomAD 12-6814155-G-A, CADD 5.57
- N77I (p.Asn77Ile), NCI-TCGA Cosmic COSV5059, cosmic curated COSV50590, MetaLR 0.07, MetaSVM -1.00, Variant assessed as somatic; moderate impact.
- N77S (p.Asn77Ser), gnomAD 12-6814157-A-G, REVEL 0.03, MetaLR 0.05
- D78G (p.Asp78Gly), gnomAD 12-6814160-A-G, REVEL 0.12, MetaLR 0.17
- R79C (p.Arg79Cys), cosmic curated COSV10500, ExAC rs200264344, TOPMed rs200264344, gnomAD rs200264344, REVEL 0.30, MetaLR 0.51
- R79H (p.Arg79His), NCI-TCGA Cosmic COSV5058, cosmic curated COSV50589, Ensembl rs1943021607, REVEL 0.28, MetaLR 0.48, Variant assessed as somatic; moderate impact.
- R79R (p.Arg79Arg), rs202205614, gnomAD 12-6814164-C-T, CADD 0.33
- A80S (p.Ala80Ser), 1000Genomes rs201343243, ExAC rs201343243, TOPMed rs201343243, gnomAD rs201343243, REVEL 0.09, MetaLR 0.10
- A80T (p.Ala80Thr), cosmic curated COSV50589, 1000Genomes rs201343243, ExAC rs201343243, TOPMed rs201343243, REVEL 0.07, MetaLR 0.10
- A80V (p.Ala80Val), rs1239818302, NCI-TCGA Cosmic COSV9916, cosmic curated COSV99163, TOPMed rs1239818302, REVEL 0.05, MetaLR 0.10, Variant assessed as somatic; moderate impact.
- D81E (p.Asp81Glu), Ensembl rs1943022368, MetaLR 0.10, MetaSVM -1.01
- D81V (p.Asp81Val), TOPMed rs200573785, gnomAD rs200573785, REVEL 0.29, MetaLR 0.45
- D81H (p.Asp81His), gnomAD 12-6814168-G-C, REVEL 0.21, MetaLR 0.51
- D81N (p.Asp81Asn), gnomAD 12-6814168-G-A, REVEL 0.25, MetaLR 0.36
- S82* (p.Ser82Ter), gnomAD 12-6814172-C-G, CADD 33.00
- S82L (p.Ser82Leu), gnomAD 12-6814172-C-T, REVEL 0.20, MetaLR 0.41
- S82S (p.Ser82Ser), rs1317242600, gnomAD 12-6814173-A-G, CADD 0.23
- R83K (p.Arg83Lys), TOPMed rs1270728621, REVEL 0.06, MetaLR 0.06
Public CD4 analysis runs
- CD4 analysis run — CD4 (712 variants) — completed 2026-08-22