S21R (p.Ser21Arg) variant of MTHFR (P42898)
S21R (p.Ser21Arg) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- TOPMed rs1215184376
- gnomAD rs1215184376
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.42
- CADD 20.60
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available