P86L (p.Pro86Leu) variant of MMUT (P22033)
P86L (p.Pro86Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; MMUT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- rs769348060
- ClinGen CA3847150
- ClinVar RCV000669290
- ClinVar RCV001376596
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; MMUT
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT)… (PMID 25125334)