E45V (p.Glu45Val) variant of MYO7A (Unconventional myosin-VIIa)
E45V (p.Glu45Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- gnomAD 11-77147799-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available