E13G (p.Glu13Gly) variant of HMBS (Porphobilinogen deaminase)
E13G (p.Glu13Gly) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs2497421539
- ClinGen CA382888019
- ClinVar RCV003388509
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available