R22H (p.Arg22His) variant of HMBS (Porphobilinogen deaminase)
R22H (p.Arg22His) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Acute intermittent porphyria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R22H (p.Arg22His) variant details
- p.Arg22His
- rs760087108
- ClinGen CA6313888
- ClinVar RCV001959394
- ClinVar RCV003401983
- Uncertain significance
- not specified; Acute intermittent porphyria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Acute intermittent porphyria; not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)