S28Y (p.Ser28Tyr) variant of NR2E3 (Q9Y5X4)
S28Y (p.Ser28Tyr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- gnomAD 15-71810826-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 22.90
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available