CD82 p.Val62=
c.186G>A · rs34170190 · VCV711550
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.82%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 16.35 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.82%
African / African-American · 2,867/75,044 alleles
Filtering AF
3.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.66%
Overall
0.206%
3,327/1,614,182 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.82% | 26 |
| Remaining individualsnot grpmax-eligible | 0.266% | 377 |
| Admixed American | 0.265% | 378 |
| Middle Eastern | 0.264% | 379 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0777% | 1,287 |
| South Asian | 0.00988% | 10,121 |
| European (non-Finnish) | 0.00729% | 13,721 |
| East Asian | 0.00223% | 44,866 |
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
- CD82
- Protein
- p.Val62=
- Coding
- c.186G>A
- MANE Select
- NM_002231
- dbSNP
- rs34170190
- Type
- single nucleotide variant
- Location
- chr11:44605107 (GRCh38)
- Gene constraint
- LOEUF 1.221 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.31 · 1 PDB
Similar variants
- CD82 p.Gly233= Benign ★★ same type
- CD82 p.Leu248= Benign ★★ same type
- CD82 p.Ala195Val Uncertain significance ★ ⚠ same type
- CD82 p.Arg254Trp Uncertain significance ★ ⚠ same type
- CD82 p.Arg53Ser Uncertain significance ★ ⚠ same type
- CD82 p.Asn109Ser Uncertain significance ★ ⚠ same type
- CD82 p.Asn17Ser Uncertain significance ★ ⚠ same type
- CD82 p.Asn227Thr 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/cd82-p-val62 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown