S28N (p.Ser28Asn) variant of HMBS (Porphobilinogen deaminase)
S28N (p.Ser28Asn) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AIP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- UniProt VAR 011003
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. (PMID 29360981)
- Cited in: Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. (PMID 9199558)