M342R (p.Met342Arg) variant of MMAA (Q8IVH4)
M342R (p.Met342Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M342R (p.Met342Arg) variant details
- p.Met342Arg
- rs869320657
- ClinGen CA358791
- ClinVar RCV000210840
- Ensembl rs869320657
- Pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)