P6L (p.Pro6Leu) variant of ACVRL1 (Activin receptor type-1-like)
P6L (p.Pro6Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs1940711558
- gnomAD 12-51912446-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 3.88
- Population evidence available
- Structural context available
- Literature evidence available