R52P (p.Arg52Pro) variant of MTHFR (P42898)
R52P (p.Arg52Pro) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MTHFRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R52P (p.Arg52Pro) variant details
- p.Arg52Pro
- ExAC rs754980119
- TOPMed rs754980119
- gnomAD rs754980119
- Pathogenic
- in MTHFRD
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 0.72
- SIFT 0.02
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available