A122P (p.Ala122Pro) variant of HMBS (Porphobilinogen deaminase)
A122P (p.Ala122Pro) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes population frequency data, published literature, and structural context.
A122P (p.Ala122Pro) variant details
- p.Ala122Pro
- rs143984293
- ClinGen CA6314030
- ClinVar RCV001171316
- ESP rs143984293
- Likely pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Acute intermittent porphyria)
- EBI: Likely pathogenic (in AIP)
- UniProt: Likely pathogenic (in AIP)
- Population evidence available
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)