V71A (p.Val71Ala) variant of MYH7 (Myosin-7)
V71A (p.Val71Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V71A (p.Val71Ala) variant details
- p.Val71Ala
- rs1376905623
- ClinGen CA389053497
- ClinVar RCV001804257
- gnomAD rs1376905623
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.75
- CADD 26.20
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)