R46P (p.Arg46Pro) variant of MTHFR (P42898)
R46P (p.Arg46Pro) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MTHFRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- ExAC rs776483190
- TOPMed rs776483190
- gnomAD rs776483190
- Likely pathogenic
- in MTHFRD
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.51
- CADD 20.70
- PolyPhen-2 0.40
- SIFT 0.19
- EBI: Likely pathogenic (in MTHFRD)
- UniProt: Likely pathogenic (in MTHFRD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available