E45A (p.Glu45Ala) variant of MYO7A (Unconventional myosin-VIIa)
E45A (p.Glu45Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E45A (p.Glu45Ala) variant details
- p.Glu45Ala
- TOPMed rs1383661917
- gnomAD rs1383661917
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available