V13M (p.Val13Met) variant of ACTN2 (Alpha-actinin-2)
V13M (p.Val13Met) in ACTN2 (Alpha-actinin-2) 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 0.35 / 1. The record also includes population frequency data and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- NCI-TCGA Cosmic COSV6397
- cosmic curated COSV63976
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available