P572L (p.Pro572Leu) variant of MTHFR (P42898)
P572L (p.Pro572Leu) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P572L (p.Pro572Leu) variant details
- p.Pro572Leu
- rs144508139
- ClinGen CA595245
- ClinVar RCV002630048
- ClinVar RCV005425067
- Pathogenic/Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.86
- CADD 29.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)