CD151 p.Cys80=
c.240C>T · rs34726520 · VCV714494
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 6 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.72%, mid)
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 -7.5 | GERP -4.1 |
| Overall | ||
| CADD | 5.486 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.72%
Middle Eastern · 104/6,056 alleles
Filtering AF
1.45%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.35%
Overall
0.103%
1,662/1,611,432 alleles · low-frequency
exomes 1,142/1,459,094 · genomes 520/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.72% | 58 |
| African / African-American | 0.953% | 105 |
| Admixed American | 0.323% | 309 |
| Remaining individualsnot grpmax-eligible | 0.173% | 578 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0845% | 1,183 |
| South Asian | 0.0626% | 1,598 |
| European (non-Finnish) | 0.0389% | 2,570 |
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
- CD151
- Protein
- p.Cys80=
- Coding
- c.240C>T
- MANE Select
- NM_004357
- dbSNP
- rs34726520
- Type
- single nucleotide variant
- Location
- chr11:836406 (GRCh38)
- Gene constraint
- LOEUF 0.816 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.02
Similar variants
- CD151 p.Lys7Ter Pathogenic ★★ same type
- CD151 c.352-11C>G Uncertain significance ★★ same type
- CD151 c.702+4A>G Uncertain significance ★★ same type
- CD151 c.702+5G>C Uncertain significance ★★ same type
- CD151 p.Ala145Thr Uncertain significance ★★ ⚠ same type
- CD151 p.Ala81Thr Uncertain significance ★★ ⚠ same type
- CD151 p.Arg133Cys Uncertain significance ★★ same type
- CD151 p.Arg165Gln 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/cd151-p-cys80 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown