E73G (p.Glu73Gly) variant of HMBS (Porphobilinogen deaminase)
E73G (p.Glu73Gly) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E73G (p.Glu73Gly) variant details
- p.Glu73Gly
- TOPMed rs1946173722
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available