G33V (p.Gly33Val) variant of NR2E3 (Q9Y5X4)
G33V (p.Gly33Val) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- rs2543252255
- ClinGen CA393031795
- ClinVar RCV003858809
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 18.30
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available