R108C (p.Arg108Cys) variant of MYH7 (Myosin-7)
R108C (p.Arg108Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs1893015309
- ClinGen CA389053090
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV001206234
- Uncertain significance
- Hypertrophic cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 0.98
- CADD 33.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available