E52K (p.Glu52Lys) variant of HMBS (Porphobilinogen deaminase)
E52K (p.Glu52Lys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- Ensembl rs11544979
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.31
- Structural context available