S10C (p.Ser10Cys) variant of NR2E3 (Q9Y5X4)
S10C (p.Ser10Cys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- gnomAD 15-71810771-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 22.40
- PolyPhen-2 0.61
- SIFT 0.01
- Population evidence available
- Literature evidence available