P23H (p.Pro23His) variant of ACVRL1 (Activin receptor type-1-like)
P23H (p.Pro23His) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- gnomAD 12-51913105-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.26
- CADD 11.50
- PolyPhen-2 0.25
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available