V8I (p.Val8Ile) variant of MYH7 (Myosin-7)
V8I (p.Val8Ile) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs754388460
- ClinGen CA032179
- ClinVar RCV000617948
- ClinVar RCV001185759
- Conflicting interpretations
- not specified; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.41
- MetaSVM -0.72
- CADD 10.39
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00053)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)