Y65H (p.Tyr65His) variant of MYH7 (Myosin-7)
Y65H (p.Tyr65His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Y65H (p.Tyr65His) variant details
- p.Tyr65His
- rs2138686468
- ClinGen CA389053606
- ClinVar RCV001804266
- ClinVar RCV003487789
- Conflicting interpretations
- not specified; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.27
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)