V9V (p.Val9Val) variant of STXBP1 (Syntaxin-binding protein 1)
V9V (p.Val9Val) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V9V (p.Val9Val) variant details
- p.Val9Val
- rs1838430141
- gnomAD 9-127612430-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 15.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available