G81S (p.Gly81Ser) variant of NFE2L2 (Q16236)
G81S (p.Gly81Ser) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency, developmental delay, and hypohomocysteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
G81S (p.Gly81Ser) variant details
- p.Gly81Ser
- rs1553487942
- NCI-TCGA Cosmic COSV6796
- Pathogenic
- Immunodeficiency, developmental delay, and hypohomocysteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.13
- MetaLR 0.38
- MetaSVM -0.22
- SIFT 0.07
- MutPred 0.12
- ClinVar: Pathogenic (Immunodeficiency, developmental delay, and hypohomocysteinemia)
- EBI: Pathogenic (in IMDDHH)
- UniProt: Pathogenic (in IMDDHH)
- Structural context available
- Cited in: Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. (PMID 29018201)