V132A (p.Val132Ala) variant of ACVR1 (Activin receptor type-1)
V132A (p.Val132Ala) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V132A (p.Val132Ala) variant details
- p.Val132Ala
- ExAC rs74905152
- TOPMed rs74905152
- gnomAD rs74905152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available