S21I (p.Ser21Ile) variant of MTHFR (P42898)
S21I (p.Ser21Ile) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
S21I (p.Ser21Ile) variant details
- p.Ser21Ile
- 1000Genomes rs372125653
- ExAC rs372125653
- TOPMed rs372125653
- gnomAD rs372125653
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available