V8L (p.Val8Leu) variant of MYH7 (Myosin-7)
V8L (p.Val8Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs754388460
- ClinGen CA032191
- ClinVar RCV003080383
- ExAC rs754388460
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.72
- CADD 10.39
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available