A20D (p.Ala20Asp) variant of NR2E3 (Q9Y5X4)
A20D (p.Ala20Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 15-71810802-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 6.54
- PolyPhen-2 0.08
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available