P5L (p.Pro5Leu) variant of NR2E3 (Q9Y5X4)
P5L (p.Pro5Leu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- gnomAD 15-71810757-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available