A15T (p.Ala15Thr) variant of NR2E3 (Q9Y5X4)
A15T (p.Ala15Thr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- Ensembl rs2054171943
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available