A22G (p.Ala22Gly) variant of NR2E3 (Q9Y5X4)
A22G (p.Ala22Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- gnomAD 15-71810808-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available