R34H (p.Arg34His) variant of MYH6 (Myosin-6)
R34H (p.Arg34His) 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; not provided; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs762303505
- ClinGen CA7116264
- cosmic curated COSV10819
- ClinVar RCV000552949
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- CADD 25.20
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)