L13L (p.Leu13Leu) variant of ACVRL1 (Activin receptor type-1-like)
L13L (p.Leu13Leu) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 12-51912513-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.82
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available