L347R (p.Leu347Arg) variant of MMUT (P22033)
L347R (p.Leu347Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L347R (p.Leu347Arg) variant details
- p.Leu347Arg
- rs1026703654
- ClinGen CA364400331
- ClinVar RCV000995811
- UniProt VAR 026610
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.99
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Isolated Methylmalonic Acidemia. (PMID 20301409)