A116T (p.Ala116Thr) variant of MTHFR (P42898)
A116T (p.Ala116Thr) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- rs1056919085
- ClinGen CA17974700
- ClinVar RCV001808302
- ClinVar RCV003464148
- Conflicting interpretations
- not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.79
- CADD 24.00
- PolyPhen-2 0.54
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; Homocystinuria due to methylene tetrahydrofolate r)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)