S5F (p.Ser5Phe) variant of ACVRL1 (Activin receptor type-1-like)
S5F (p.Ser5Phe) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD 12-51912488-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.39
- CADD 0.40
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available