A324T (p.Ala324Thr) variant of MMUT (P22033)
A324T (p.Ala324Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MMUT-related disorder; Methylmalonic aciduria due to complete methylmalonyl-CoA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A324T (p.Ala324Thr) variant details
- p.Ala324Thr
- rs780387525
- ClinGen CA364400785
- NCI-TCGA Cosmic COSV5127
- ClinVar RCV000665776
- Pathogenic/Likely pathogenic
- MMUT-related disorder; Methylmalonic aciduria due to complete methylmalonyl-CoA
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MMUT-related disorder; Methylmalonic aciduria due to complete me)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID 15781192)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)