P194L (p.Pro194Leu) variant of MMUT (P22033)
P194L (p.Pro194Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P194L (p.Pro194Leu) variant details
- p.Pro194Leu
- rs1254433398
- ClinGen CA364404418
- ClinVar RCV001386690
- ClinVar RCV002504646
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)