A31P (p.Ala31Pro) variant of HMBS (Porphobilinogen deaminase)
A31P (p.Ala31Pro) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- UniProt VAR 011004
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)