I50V (p.Ile50Val) variant of STXBP1 (Syntaxin-binding protein 1)
I50V (p.Ile50Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- ExAC rs763601887
- gnomAD rs763601887
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available