SNAP29 p.Val95=
c.285G>A · rs2518511783 · VCV2994531
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 0.11 | phastCons 0.65 |
| Overall | ||
| CADD | 6.175 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- SNAP29
- Protein
- p.Val95=
- Coding
- c.285G>A
- MANE Select
- NM_004782
- dbSNP
- rs2518511783
- Type
- single nucleotide variant
- Location
- chr22:20870384 (GRCh38)
- Gene constraint
- LOEUF 0.833 · pLI 0.06 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.85 · 2 PDB
- Residue 95
- an α-helix
Similar variants
- SNAP29 p.Val95Met Uncertain significance ★ same residue
- SNAP29 p.Arg85Ter Pathogenic/Likely pathogenic ★★ same type
- SNAP29 p.Met1Thr Pathogenic/Likely pathogenic ★★ same type
- SNAP29 c.-76G>A Uncertain significance ★★ same type
- SNAP29 c.*3014C>T Uncertain significance ★★ same type
- SNAP29 c.*840G>C Uncertain significance ★★ same type
- SNAP29 p.Ala20Pro Uncertain significance ★★ ⚠ same type
- SNAP29 p.Ala65Pro 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/snap29-p-val95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown