L8P (p.Leu8Pro) variant of NR2E3 (Q9Y5X4)
L8P (p.Leu8Pro) 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 0.08 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- rs2054171599
- ClinGen CA393031419
- ClinVar RCV001233330
- Ensembl rs2054171599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0764
- CADD 2.56
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available