P39R (p.Pro39Arg) variant of ACVRL1 (Activin receptor type-1-like)
P39R (p.Pro39Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- gnomAD 12-51913153-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.36
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available