V76E (p.Val76Glu) variant of MYH7 (Myosin-7)
V76E (p.Val76Glu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
V76E (p.Val76Glu) variant details
- p.Val76Glu
- rs1595091109
- ClinGen CA389053443
- ClinVar RCV004523014
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.81
- CADD 28.40
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available