D41Y (p.Asp41Tyr) variant of MYH7 (Myosin-7)
D41Y (p.Asp41Tyr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- rs1157169154
- ClinVar RCV004575882
- ClinVar RCV005250340
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.91
- MetaSVM 1.04
- CADD 29.80
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available