V13E (p.Val13Glu) variant of NR2E3 (Q9Y5X4)
V13E (p.Val13Glu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V13E (p.Val13Glu) variant details
- p.Val13Glu
- gnomAD 15-71810781-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available