A17T (p.Ala17Thr) variant of NR2E3 (Q9Y5X4)
A17T (p.Ala17Thr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 15-71810792-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available