STAP1 p.Asn274=
c.822C>T · rs2545910230 · VCV3226196
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 -1.2 | GERP -4.3 |
| Overall | ||
| CADD | 3.035 | 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
- STAP1
- Protein
- p.Asn274=
- Coding
- c.822C>T
- MANE Select
- NM_012108
- dbSNP
- rs2545910230
- Type
- single nucleotide variant
- Location
- chr4:67593352 (GRCh38)
- Structure
- AlphaFold pLDDT 88.06
Similar variants
- STAP1 p.Gln192Arg Uncertain significance ★★ ⚠ same type
- STAP1 p.Leu288Val Uncertain significance ★★ ⚠ same type
- STAP1 c.120+6T>C Benign/Likely benign ★★ same type
- STAP1 c.192+102T>C Likely benign ★★ same type
- STAP1 c.192+10T>C Benign ★★ same type
- STAP1 c.530+11A>G Benign ★★ same type
- STAP1 c.530+60A>G Benign ★★ same type
- STAP1 c.730-41G>C 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/stap1-p-asn274 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown