S11P (p.Ser11Pro) variant of NR2E3 (Q9Y5X4)
S11P (p.Ser11Pro) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD 15-71810774-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available