V22E (p.Val22Glu) variant of MYO7A (Unconventional myosin-VIIa)
V22E (p.Val22Glu) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V22E (p.Val22Glu) variant details
- p.Val22Glu
- gnomAD 11-77142755-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available