M56T (p.Met56Thr) variant of HMBS (Porphobilinogen deaminase)
M56T (p.Met56Thr) 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 0.97 / 1. The record also includes population frequency data and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- rs1946167378
- ClinGen CA382889036
- ClinVar RCV003050826
- TOPMed rs1946167378
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available