G33A (p.Gly33Ala) variant of NR2E3 (Q9Y5X4)
G33A (p.Gly33Ala) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD 15-71810837-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 26.50
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available