M1T (p.Met1Thr) variant of MMUT (P22033)
M1T (p.Met1Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of METHYLMALONIC ACIDURIA, mut(0) TYPE; Methylmalonic aciduria due to methylmalonyl. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs879253820
- ClinGen CA10575890
- ClinVar RCV000236350
- ClinVar RCV000714689
- Pathogenic
- METHYLMALONIC ACIDURIA, mut(0) TYPE; Methylmalonic aciduria due to methylmalonyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- MutPred 1.00
- ClinVar: Pathogenic (METHYLMALONIC ACIDURIA, mut(0) TYPE; Methylmalonic aciduria due)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)