Q29R (p.Gln29Arg) variant of HMBS (Porphobilinogen deaminase)
Q29R (p.Gln29Arg) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- rs2497422220
- ClinGen CA382888196
- ClinVar RCV003677572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- ESM-1b 1.00
- AlphaMissense 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available