M90R (p.Met90Arg) variant of MYH7 (Myosin-7)
M90R (p.Met90Arg) 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 0.90 / 1. The record also includes structural context.
M90R (p.Met90Arg) variant details
- p.Met90Arg
- rs1893017457
- ClinGen CA389053285
- ClinVar RCV001044488
- Ensembl rs1893017457
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- CADD 27.40
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available