CD82 p.Leu248=
c.744G>C · rs74885383 · VCV789795
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.16%, 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 2.5 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 7.511 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.16%
African / African-American · 3,115/74,926 alleles
Filtering AF
4.04%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.99%
Overall
0.22%
3,548/1,613,774 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.16% | 24 |
| Remaining individualsnot grpmax-eligible | 0.264% | 379 |
| Admixed American | 0.198% | 504 |
| Middle Eastern | 0.132% | 758 |
| European (non-Finnish) | 0.0116% | 8,613 |
| South Asian | 0.00439% | 22,769 |
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.Leu248=
- Coding
- c.744G>C
- MANE Select
- NM_002231
- dbSNP
- rs74885383
- Type
- single nucleotide variant
- Location
- chr11:44619066 (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.Val62= 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-leu248 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown