V2E (p.Val2Glu) variant of MYO7A (Unconventional myosin-VIIa)
V2E (p.Val2Glu) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- gnomAD 11-77130639-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.78
- CADD 26.60
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available