V39M (p.Val39Met) variant of MYH6 (Myosin-6)
V39M (p.Val39Met) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs142850511
- ClinGen CA237379
- cosmic curated COSV62452
- ClinVar RCV000172038
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.73
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)