R22C (p.Arg22Cys) variant of HMBS (Porphobilinogen deaminase)
R22C (p.Arg22Cys) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute intermittent porphyria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- rs189159450
- ClinGen CA6313887
- cosmic curated COSV53828
- ClinVar RCV001809135
- Conflicting interpretations
- Acute intermittent porphyria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Acute intermittent porphyria; not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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 of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated… (PMID 9463797)