V32M (p.Val32Met) variant of STXBP1 (Syntaxin-binding protein 1)
V32M (p.Val32Met) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- Ensembl rs1036081930
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.80
- CADD 27.50
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available