A55G (p.Ala55Gly) variant of HMBS (Porphobilinogen deaminase)
A55G (p.Ala55Gly) 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 0.26 / 1. The record also includes structural context.
A55G (p.Ala55Gly) variant details
- p.Ala55Gly
- rs2497430462
- ClinGen CA382889023
- ClinVar RCV003683549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Structural context available