R54Q (p.Arg54Gln) variant of MYH6 (Myosin-6)
R54Q (p.Arg54Gln) 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 1; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs727503239
- ClinGen CA176972
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 23.50
- PolyPhen-2 0.48
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)