R23C (p.Arg23Cys) variant of MYH6 (Myosin-6)
R23C (p.Arg23Cys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs587782959
- ClinGen CA345828
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6244
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.66
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 14)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)