A175T (p.Ala175Thr) variant of MTHFR (P42898)
A175T (p.Ala175Thr) 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; Neural tu. 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.
A175T (p.Ala175Thr) variant details
- p.Ala175Thr
- rs1182635980
- ClinGen CA338422026
- cosmic curated COSV64702
- ClinVar RCV001985134
- Pathogenic/Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tu
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 1.00
- 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 Non-Finnish European population (allele frequency 3.6e-06)
- 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)