R26P (p.Arg26Pro) variant of HMBS (Porphobilinogen deaminase)
R26P (p.Arg26Pro) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- rs118204103
- ClinGen CA382888155
- ClinVar RCV001216002
- TOPMed rs118204103
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available