M1L (p.Met1Leu) variant of MMAB (Q96EY8)
M1L (p.Met1Leu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1884749143
- ClinGen CA386641683
- ClinVar RCV001067639
- Pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)