Q34K (p.Gln34Lys) variant of HMBS (Porphobilinogen deaminase)
Q34K (p.Gln34Lys) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- rs118204105
- ClinGen CA251811
- ClinVar RCV000001520
- UniProt VAR 003641
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria… (PMID 1427766)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)