E45G (p.Glu45Gly) variant of MYH7 (Myosin-7)
E45G (p.Glu45Gly) 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 0.39 / 1. The record also includes structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- rs864622383
- ClinGen CA350127
- ClinVar RCV000206071
- Ensembl rs864622383
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.38
- MetaLR 0.32
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.21
- EVE 0.07
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available