W112R (p.Trp112Arg) variant of MYH7 (Myosin-7)
W112R (p.Trp112Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes structural context.
W112R (p.Trp112Arg) variant details
- p.Trp112Arg
- Ensembl rs1595091009
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.93
- CADD 27.40
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Structural context available