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 0.38 / 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 0.385
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available