A113T (p.Ala113Thr) variant of MTHFR (P42898)
A113T (p.Ala113Thr) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- rs147257424
- ClinGen CA198574
- ClinVar RCV000167592
- ClinVar RCV003462247
- Pathogenic/Likely pathogenic
- Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- CADD 26.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neural tube defects, folate-sensitive; Homocystinuria due to met)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)