A8V (p.Ala8Val) variant of STXBP1 (Syntaxin-binding protein 1)
A8V (p.Ala8Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10096
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.21
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available