R29W (p.Arg29Trp) variant of MYH6 (Myosin-6)
R29W (p.Arg29Trp) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- rs752885646
- ClinGen CA7116271
- ClinVar RCV001537052
- ClinVar RCV002449360
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.53
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.01
- 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 4.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)