L598R (p.Leu598Arg) variant of MTHFR (P42898)
L598R (p.Leu598Arg) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
L598R (p.Leu598Arg) variant details
- p.Leu598Arg
- rs786204034
- ClinGen CA338473938
- ClinVar RCV001808247
- Ensembl rs786204034
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.84
- MetaLR 0.43
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely pathogenic (in MTHFRD)
- UniProt: Likely pathogenic (in MTHFRD)
- Structural context available