A252V (p.Ala252Val) variant of HMBS (Porphobilinogen deaminase)
A252V (p.Ala252Val) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A252V (p.Ala252Val) variant details
- p.Ala252Val
- rs118204114
- ClinGen CA251834
- ClinVar RCV000001538
- UniProt VAR 003668
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 24.90
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)