R26L (p.Arg26Leu) variant of HMBS (Porphobilinogen deaminase)
R26L (p.Arg26Leu) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs118204103
- ClinGen CA382888156
- ClinVar RCV000824246
- TOPMed rs118204103
- 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: Pathogenic (not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available