S27F (p.Ser27Phe) variant of ACVRL1 (Activin receptor type-1-like)
S27F (p.Ser27Phe) 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.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- gnomAD 12-51913117-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.23
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available