V52L (p.Val52Leu) variant of MYH7 (Myosin-7)
V52L (p.Val52Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- rs730880919
- ClinGen CA389053722
- ClinVar RCV001184589
- TOPMed rs730880919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.82
- CADD 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)