M40L (p.Met40Leu) variant of STXBP1 (Syntaxin-binding protein 1)
M40L (p.Met40Leu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M40L (p.Met40Leu) variant details
- p.Met40Leu
- gnomAD rs1840654791
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available