CD81 p.Ala213=
c.639T>C · rs2229751 · VCV1170392
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 33.9%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.197 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -3.7 |
| Overall | ||
| CADD | 0.883 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
33.9%
African / African-American · 25,391/75,002 alleles
Filtering AF
33.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 33.4%
Overall
2.77%
44,613/1,611,676 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 33.9% | 3 |
| Middle Eastern | 5.48% | 18 |
| Ashkenazi Jewishnot grpmax-eligible | 4.41% | 23 |
| Remaining individualsnot grpmax-eligible | 4.01% | 25 |
| Admixed American | 3.91% | 26 |
| South Asian | 3.4% | 29 |
| East Asian | 2.56% | 39 |
| Amishnot grpmax-eligible | 1.43% | 70 |
| European (non-Finnish) | 0.715% | 140 |
| Finnishnot grpmax-eligible | 0.0535% | 1,870 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CD81
- Protein
- p.Ala213=
- Coding
- c.639T>C
- MANE Select
- NM_004356
- dbSNP
- rs2229751
- Type
- single nucleotide variant
- Location
- chr11:2396705 (GRCh38)
- Gene constraint
- LOEUF 0.702 · pLI 0.36 (gnomAD)
- Structure
- AlphaFold pLDDT 87.24 · 16 PDB
- Residue 213
- an α-helix
Similar variants
- CD81 c.561+5G>A Uncertain significance ★★ same type
- CD81 p.Ala120Thr Uncertain significance ★★ ⚠ same type
- CD81 p.Ala54Val Uncertain significance ★★ ⚠ same type
- CD81 p.Arg231Gln Uncertain significance ★★ ⚠ same type
- CD81 p.Asn115Ser Uncertain significance ★★ ⚠ same type
- CD81 p.Asn141Lys Uncertain significance ★★ ⚠ same type
- CD81 p.Asn141Ser Uncertain significance ★★ ⚠ same type
- CD81 p.Asn173Asp Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cd81-p-ala213 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown