A113S (p.Ala113Ser) variant of MTHFR (P42898)
A113S (p.Ala113Ser) 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 0.78 / 1. The record also includes population frequency data and structural context.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- rs147257424
- ClinGen CA595689
- ClinVar RCV001838859
- ESP rs147257424
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.17
- ClinVar: 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 2.9e-05)
- Structural context available