CD81 p.Leu91=
c.273G>A · rs372129042 · VCV725163
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0557%, nfe)
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 4.8 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 11.49 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0557%
European (non-Finnish) · 655/1,176,996 alleles
Filtering AF
0.0521%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0506%
Overall
0.0438%
705/1,609,126 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0557% | 1,797 |
| Remaining individualsnot grpmax-eligible | 0.0337% | 2,966 |
| Finnishnot grpmax-eligible | 0.0254% | 3,937 |
| African / African-American | 0.0147% | 6,805 |
| Admixed American | 0.00333% | 29,991 |
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.Leu91=
- Coding
- c.273G>A
- MANE Select
- NM_004356
- dbSNP
- rs372129042
- Type
- single nucleotide variant
- Location
- chr11:2394186 (GRCh38)
- Gene constraint
- LOEUF 0.702 · pLI 0.36 (gnomAD)
- Structure
- AlphaFold pLDDT 87.24 · 16 PDB
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-leu91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown