F337L (p.Phe337Leu) variant of MMUT (P22033)
F337L (p.Phe337Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F337L (p.Phe337Leu) variant details
- p.Phe337Leu
- rs1581831934
- ClinGen CA364400517
- ClinVar RCV000987711
- Ensembl rs1581831934
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.86
- CADD 24.40
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)