E80G (p.Glu80Gly) variant of HMBS (Porphobilinogen deaminase)
E80G (p.Glu80Gly) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
E80G (p.Glu80Gly) variant details
- p.Glu80Gly
- rs1946174360
- ClinGen CA382889920
- ClinVar RCV001054754
- UniProt VAR 025562
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene. (PMID 11399210)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)