E25D (p.Glu25Asp) variant of MYH7 (Myosin-7)
E25D (p.Glu25Asp) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- TOPMed rs1893039483
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.30
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available