G72E (p.Gly72Glu) variant of HMBS (Porphobilinogen deaminase)
G72E (p.Gly72Glu) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G72E (p.Gly72Glu) variant details
- p.Gly72Glu
- gnomAD rs1946173573
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.10
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available