I128F (p.Ile128Phe) variant of ACVR1 (Activin receptor type-1)
I128F (p.Ile128Phe) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I128F (p.Ile128Phe) variant details
- p.Ile128Phe
- gnomAD rs1400837052
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.74
- SIFT 0.09
- Population evidence available
- Structural context available