V10A (p.Val10Ala) variant of STXBP1 (Syntaxin-binding protein 1)
V10A (p.Val10Ala) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- gnomAD 9-127612432-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.48
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available