G56R (p.Gly56Arg) variant of MYH6 (Myosin-6)
G56R (p.Gly56Arg) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- rs28711516
- ClinGen CA134248
- cosmic curated COSV62451
- ClinVar RCV000037445
- Benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign (in dbSNP:rs28711516)
- UniProt: Benign (in dbSNP:rs28711516)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. (PMID 15998695)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)