H127Y (p.His127Tyr) variant of MTHFR (P42898)
H127Y (p.His127Tyr) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Homocystinuria due to methylene tetrahydrofolate reductase defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
H127Y (p.His127Tyr) variant details
- p.His127Tyr
- rs769381688
- ClinGen CA198577
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- Conflicting interpretations
- not specified; Homocystinuria due to methylene tetrahydrofolate reductase defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Homocystinuria due to methylene tetrahydrofolate)
- 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)