R34C (p.Arg34Cys) variant of MYH6 (Myosin-6)
R34C (p.Arg34Cys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided. 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.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs765792077
- ClinGen CA7116265
- NCI-TCGA Cosmic COSV6245
- cosmic curated COSV62452
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.50
- CADD 27.80
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)