CD81 p.Ile119=
c.357C>T · rs1244285507 · VCV799173
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0022%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.018 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.86 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP -5.2 | GERP -2.9 |
| Overall | ||
| CADD | 12.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0022%
South Asian · 2/91,082 alleles
Filtering AF
0.000689%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000539%
Overall
0.00112%
18/1,611,714 alleles · very rare
exomes 18/1,459,424 · genomes 0/152,290 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0022% | 45,541 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,446 |
| African / African-American | 0.00133% | 75,016 |
| European (non-Finnish) | 0.00119% | 84,211 |
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.Ile119=
- Coding
- c.357C>T
- MANE Select
- NM_004356
- dbSNP
- rs1244285507
- Type
- single nucleotide variant
- Location
- chr11:2395418 (GRCh38)
- Gene constraint
- LOEUF 0.702 · pLI 0.36 (gnomAD)
- Structure
- AlphaFold pLDDT 87.24 · 16 PDB
- Residue 119
- 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-ile119 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown