L30V (p.Leu30Val) variant of NFE2L2 (Q16236)
L30V (p.Leu30Val) in NFE2L2 (Q16236) 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 0.45 / 1. The record also includes population frequency data.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- rs1689663660
- ClinGen CA349381845
- ClinVar RCV001772816
- TOPMed rs1689663660
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)