V13L (p.Val13Leu) variant of NR2E3 (Q9Y5X4)
V13L (p.Val13Leu) 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 0.05 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs1367552026
- ClinGen CA393031489
- ClinVar RCV001339883
- ClinVar RCV001830415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available