A8T (p.Ala8Thr) variant of STXBP1 (Syntaxin-binding protein 1)
A8T (p.Ala8Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 9-127612425-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available