D36V (p.Asp36Val) variant of MYH7 (Myosin-7)
D36V (p.Asp36Val) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- TOPMed rs1893037846
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.23
- ESM-1b 0.88
- AlphaMissense 0.36
- MetaLR 0.32
- MetaSVM -0.55
- CADD 24.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available