V47A (p.Val47Ala) variant of MYH7 (Myosin-7)
V47A (p.Val47Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- TOPMed rs1595091435
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.73
- MetaSVM 0.49
- CADD 26.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available