I33T (p.Ile33Thr) variant of HMBS (Porphobilinogen deaminase)
I33T (p.Ile33Thr) 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 0.65 / 1. The record also includes structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available