G31R (p.Gly31Arg) variant of NFE2L2 (Q16236)
G31R (p.Gly31Arg) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Immunodeficiency, developmental delay, and hypohomocysteinemia; Colorectal cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs1553488015
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- Pathogenic/Likely pathogenic
- Immunodeficiency, developmental delay, and hypohomocysteinemia; Colorectal cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.96
- MetaLR 0.30
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.58
- ClinVar: Pathogenic/Likely pathogenic (Immunodeficiency, developmental delay, and hypohomocysteinemia;)
- EBI: Pathogenic (in IMDDHH)
- UniProt: Pathogenic (in IMDDHH)
- Cited in: Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. (PMID 29018201)
- Cited in: Lynch Syndrome. (PMID 20301390)