S20G (p.Ser20Gly) variant of MTHFR (P42898)
S20G (p.Ser20Gly) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes published literature and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- rs1410562479
- ClinGen CA338423261
- ClinVar RCV002605427
- gnomAD rs1410562479
- Uncertain significance
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Uncertain significance (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)