E79K (p.Glu79Lys) variant of NFE2L2 (Q16236)
E79K (p.Glu79Lys) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- rs1057519922
- NCI-TCGA Cosmic COSV6795
- cosmic curated COSV67959
- NCI-TCGA Cosmic COSV6796
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.84
- MetaLR 0.26
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Benign (not provided)
- EBI: Pathogenic (in IMDDHH)
- UniProt: Pathogenic (in IMDDHH)
- Cited in: Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. (PMID 29018201)