CD151 p.Leu98del
c.289CTC[1] · rs762974959 · VCV2982024
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000339%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 0.92, phastCons 1 |
| Overall | ||
| CADD | 17.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000339%
European (non-Finnish) · 4/1,179,918 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000274%
4/1,460,498 alleles · very rare
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.Leu98del
- Coding
- c.289CTC[1]
- MANE Select
- NM_004357
- dbSNP
- rs762974959
- Type
- Microsatellite
- Location
- chr11:836781 (GRCh38)
- Gene constraint
- LOEUF 0.816 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.02
Similar variants
- CD151 p.Leu98= Likely benign ★★ same residue
- CD151 c.84+20CCCCCA[2] Likely benign ★★ same type
- CD151 c.84+20CCCCCA[4] Benign/Likely benign ★★ same type
- CD151 p.Asn160del Uncertain significance ★ same type
- CD151 c.84+30_84+41del Likely benign ★ 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-leu98del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown