Q14H (p.Gln14His) variant of NFE2L2 (Q16236)
Q14H (p.Gln14His) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Q14H (p.Gln14His) variant details
- p.Gln14His
- rs2105502961
- ClinGen CA349389730
- ClinVar RCV002047881
- Ensembl rs2105502961
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.09
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available