TRIP13 p.Val249=
c.747G>A · rs761215009 · VCV2655261
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. | ||
| REVEL | 0.015 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP 0.25, phastCons 1 |
| Overall | ||
| CADD | 10.4 | 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
- TRIP13
- Protein
- p.Val249=
- Coding
- c.747G>A
- MANE Select
- NM_004237
- dbSNP
- rs761215009
- Type
- single nucleotide variant
- Location
- chr5:908062 (GRCh38)
- Gene constraint
- LOEUF 0.592 · pLI 0.19 (gnomAD)
- Structure
- AlphaFold pLDDT 86.94 · 6 PDB
- Residue 249
- a β-strand
Similar variants
- TRIP13 p.Ala92Glu Uncertain significance ★★ ⚠ same type
- TRIP13 p.Arg28Ser Uncertain significance ★★ ⚠ same type
- TRIP13 p.Arg347Cys Uncertain significance ★★ ⚠ same type
- TRIP13 p.Asp238Asn Uncertain significance ★★ ⚠ same type
- TRIP13 p.Ile330Val Uncertain significance ★★ ⚠ same type
- TRIP13 p.Lys379Arg Uncertain significance ★★ ⚠ same type
- TRIP13 p.Val307Met Uncertain significance ★★ ⚠ same type
- TRIP13 c.1021-18G>A 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/trip13-p-val249 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown