A2T (p.Ala2Thr) variant of STXBP1 (Syntaxin-binding protein 1)
A2T (p.Ala2Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- cosmic curated COSV10890
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.19
- CADD 25.20
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available