L323P (p.Leu323Pro) variant of MTHFR (P42898)
L323P (p.Leu323Pro) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia due to thrombin defect; Homocystinuria due to methylene tetrahydro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L323P (p.Leu323Pro) variant details
- p.Leu323Pro
- rs121434297
- ClinGen CA278061
- ClinVar RCV002512718
- ClinVar RCV003466798
- Pathogenic/Likely pathogenic
- Thrombophilia due to thrombin defect; Homocystinuria due to methylene tetrahydro
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to thrombin defect; Homocystinuria due to meth)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five… (PMID 8940272)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)