G56V (p.Gly56Val) variant of MYH7 (Myosin-7)
G56V (p.Gly56Val) 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 0.70 / 1. The record also includes structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- rs727504870
- ClinGen CA389053687
- ClinVar RCV001059325
- TOPMed rs727504870
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.23
- MetaLR 0.82
- MetaSVM 0.76
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available