L6L (p.Leu6Leu) variant of STXBP1 (Syntaxin-binding protein 1)
L6L (p.Leu6Leu) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs1209862330
- gnomAD 9-127612421-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 13.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available