F510L (p.Phe510Leu) variant of MYH7 (Myosin-7)
F510L (p.Phe510Leu) 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 0.79 / 1. The record also includes structural context.
F510L (p.Phe510Leu) variant details
- p.Phe510Leu
- rs606231323
- ClinGen CA010890
- ClinVar RCV000148975
- Ensembl rs606231323
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available