E42V (p.Glu42Val) variant of MYO7A (Unconventional myosin-VIIa)
E42V (p.Glu42Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E42V (p.Glu42Val) variant details
- p.Glu42Val
- gnomAD 11-77142815-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available