P202T (p.Pro202Thr) variant of MTHFR (P42898)
P202T (p.Pro202Thr) 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 0.80 / 1. The record also includes population frequency data and structural context.
P202T (p.Pro202Thr) variant details
- p.Pro202Thr
- rs1057519361
- ClinGen CA16044132
- ClinVar RCV000416935
- Ensembl rs1057519361
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.84
- CADD 26.50
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available