V18V (p.Val18Val) variant of STXBP1 (Syntaxin-binding protein 1)
V18V (p.Val18Val) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs1296643979
- gnomAD 9-127651619-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 10.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available