M1T (p.Met1Thr) variant of MMAB (Q96EY8)
M1T (p.Met1Thr) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs869320655
- ClinGen CA358800
- ClinVar RCV000210846
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.34
- MetaSVM -0.51
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)