V76M (p.Val76Met) variant of MYH6 (Myosin-6)
V76M (p.Val76Met) 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; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs977234074
- ClinGen CA257799250
- ClinVar RCV000647051
- ClinVar RCV002449056
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1EE; Hypertroph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)