L36L (p.Leu36Leu) variant of STXBP1 (Syntaxin-binding protein 1)
L36L (p.Leu36Leu) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L36L (p.Leu36Leu) variant details
- p.Leu36Leu
- rs759912722
- gnomAD 9-127653733-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 10.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available