R22G (p.Arg22Gly) variant of HMBS (Porphobilinogen deaminase)
R22G (p.Arg22Gly) 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 0.84 / 1. The record also includes population frequency data and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- 1000Genomes rs189159450
- ExAC rs189159450
- TOPMed rs189159450
- gnomAD rs189159450
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 28.60
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available