L34V (p.Leu34Val) variant of NR2E3 (Q9Y5X4)
L34V (p.Leu34Val) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- Ensembl rs898942829
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available