M1V (p.Met1Val) variant of MMAA (Q8IVH4)
M1V (p.Met1Val) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblA 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1553957856
- ClinGen CA358350686
- ClinVar RCV000666843
- Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- ESM-1b 0.83
- AlphaMissense 0.06
- MetaLR 0.44
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)