V8A (p.Val8Ala) variant of MYH7 (Myosin-7)
V8A (p.Val8Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- Ensembl rs2138687081
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.21
- MetaSVM -0.85
- CADD 1.17
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available