A252T (p.Ala252Thr) variant of HMBS (Porphobilinogen deaminase)
A252T (p.Ala252Thr) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A252T (p.Ala252Thr) variant details
- p.Ala252Thr
- rs118204113
- ClinGen CA251832
- ClinVar RCV000001537
- ClinVar RCV002512652
- Uncertain significance
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.60
- ClinVar: Uncertain significance (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Cited in: Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute… (PMID 8262523)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)