R54W (p.Arg54Trp) variant of MYH6 (Myosin-6)
R54W (p.Arg54Trp) 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; Hypertrophic cardiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs369366244
- ClinGen CA7116256
- cosmic curated COSV62452
- ClinVar RCV001974652
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypertrophic cardiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypert)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)