L17L (p.Leu17Leu) variant of ACVRL1 (Activin receptor type-1-like)
L17L (p.Leu17Leu) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs949831985
- gnomAD 12-51912523-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available