S11Y (p.Ser11Tyr) variant of NR2E3 (Q9Y5X4)
S11Y (p.Ser11Tyr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S11Y (p.Ser11Tyr) variant details
- p.Ser11Tyr
- gnomAD 15-71810775-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 18.60
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available