M1R (p.Met1Arg) variant of MMAB (Q96EY8)
M1R (p.Met1Arg) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs869320655
- ClinGen CA386641676
- ClinVar RCV001377746
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.34
- MetaSVM -0.51
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)