E73D (p.Glu73Asp) variant of HMBS (Porphobilinogen deaminase)
E73D (p.Glu73Asp) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
E73D (p.Glu73Asp) variant details
- p.Glu73Asp
- NCI-TCGA Cosmic COSV5382
- cosmic curated COSV53827
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available