S38R (p.Ser38Arg) variant of ACVRL1 (Activin receptor type-1-like)
S38R (p.Ser38Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- gnomAD 12-51913151-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.32
- CADD 8.51
- PolyPhen-2 0.09
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available