A55S (p.Ala55Ser) variant of HMBS (Porphobilinogen deaminase)
A55S (p.Ala55Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- rs118204106
- ClinGen CA251818
- ClinVar RCV000001523
- ClinVar RCV002272005
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.60
- PolyPhen-2 0.57
- SIFT 0.19
- ClinVar: Uncertain significance (not specified; 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: Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. (PMID 8270254)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)