P5T (p.Pro5Thr) variant of NR2E3 (Q9Y5X4)
P5T (p.Pro5Thr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD 15-71810756-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 1.13
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available