L41L (p.Leu41Leu) variant of STXBP1 (Syntaxin-binding protein 1)
L41L (p.Leu41Leu) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- rs766840783
- gnomAD 9-127653750-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0996
- CADD 2.67
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available
- Literature evidence available