H358L (p.His358Leu) variant of MYH7 (Myosin-7)
H358L (p.His358Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
H358L (p.His358Leu) variant details
- p.His358Leu
- rs606231316
- ClinGen CA010149
- ClinVar RCV000148982
- Ensembl rs606231316
- Pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.68
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Familial cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available