P615L (p.Pro615Leu) variant of MMUT (P22033)
P615L (p.Pro615Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
P615L (p.Pro615Leu) variant details
- p.Pro615Leu
- rs1554158777
- ClinGen CA364395321
- ClinVar RCV001975183
- ClinVar RCV005622146
- Pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.87
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.07
- CADD 28.70
- PolyPhen-2 0.97
- ClinVar: Pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (PMID 22727635)
- Cited in: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT)… (PMID 25125334)