E52G (p.Glu52Gly) variant of HMBS (Porphobilinogen deaminase)
E52G (p.Glu52Gly) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E52G (p.Glu52Gly) variant details
- p.Glu52Gly
- gnomAD 11-119088702-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 29.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available