V131A (p.Val131Ala) variant of ACVR1 (Activin receptor type-1)
V131A (p.Val131Ala) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V131A (p.Val131Ala) variant details
- p.Val131Ala
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99718
- gnomAD rs1686371118
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 22.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available