E13K (p.Glu13Lys) variant of HMBS (Porphobilinogen deaminase)
E13K (p.Glu13Lys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- TOPMed rs1946134354
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available