S130F (p.Ser130Phe) variant of ACVR1 (Activin receptor type-1)
S130F (p.Ser130Phe) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S130F (p.Ser130Phe) variant details
- p.Ser130Phe
- gnomAD rs1342623415
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available