T25I (p.Thr25Ile) variant of HMBS (Porphobilinogen deaminase)
T25I (p.Thr25Ile) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- rs2497421979
- ClinGen CA382888148
- ClinVar RCV003873131
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available