E82Q (p.Glu82Gln) variant of HMBS (Porphobilinogen deaminase)
E82Q (p.Glu82Gln) 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.
E82Q (p.Glu82Gln) variant details
- p.Glu82Gln
- gnomAD rs1381220286
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available