P615R (p.Pro615Arg) variant of MMUT (P22033)
P615R (p.Pro615Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P615R (p.Pro615Arg) variant details
- p.Pro615Arg
- rs1554158777
- ClinGen CA364395325
- ClinVar RCV000664979
- UniProt VAR 026626
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.88
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- 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)