V131I (p.Val131Ile) variant of ACVR1 (Activin receptor type-1)
V131I (p.Val131Ile) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V131I (p.Val131Ile) variant details
- p.Val131Ile
- ExAC rs767431486
- gnomAD rs767431486
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available