E86K (p.Glu86Lys) variant of HMBS (Porphobilinogen deaminase)
E86K (p.Glu86Lys) 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.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- ExAC rs753502560
- gnomAD rs753502560
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.80
- ESM-1b 0.81
- AlphaMissense 0.37
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.84
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available