Q34R (p.Gln34Arg) variant of HMBS (Porphobilinogen deaminase)
Q34R (p.Gln34Arg) 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 0.99 / 1. The record also includes published literature and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- UniProt VAR 025559
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute… (PMID 14669009)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)