p.Ala17 Ala20del variant of NR2E3 (Q9Y5X4)
p.Ala17 Ala20del 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, published literature, and structural context.
p.Ala17 Ala20del variant details
- rs1309775709
- gnomAD 15-71810783-GCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 14.50
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available