V76A (p.Val76Ala) variant of MYH7 (Myosin-7)
V76A (p.Val76Ala) in MYH7 (Myosin-7) 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 0.60 / 1. The record also includes population frequency data and structural context.
V76A (p.Val76Ala) variant details
- p.Val76Ala
- NCI-TCGA TCGA novel
- Ensembl rs1595091109
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.56
- AlphaMissense 0.47
- MetaLR 0.85
- MetaSVM 0.81
- CADD 24.50
- PolyPhen-2 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available