G24D (p.Gly24Asp) variant of HMBS (Porphobilinogen deaminase)
G24D (p.Gly24Asp) 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 1.00 / 1. The record also includes structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- rs2497421927
- ClinGen CA382888137
- ClinVar RCV003062461
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in AIP)
- UniProt: Likely pathogenic (in AIP)
- Structural context available