A31T (p.Ala31Thr) variant of HMBS (Porphobilinogen deaminase)
A31T (p.Ala31Thr) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs118204104
- ClinGen CA251809
- ClinVar RCV000001519
- UniProt VAR 003640
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. (PMID 8270254)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)