S27Y (p.Ser27Tyr) variant of ACVRL1 (Activin receptor type-1-like)
S27Y (p.Ser27Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S27Y (p.Ser27Tyr) variant details
- p.Ser27Tyr
- gnomAD 12-51913117-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.23
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available