G30C (p.Gly30Cys) variant of NR2E3 (Q9Y5X4)
G30C (p.Gly30Cys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- gnomAD 15-71810831-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 23.10
- PolyPhen-2 0.85
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available