R51W (p.Arg51Trp) variant of MTHFR (P42898)
R51W (p.Arg51Trp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Schizophrenia; Thrombophilia due to thrombin defect; Homocystinuria due to methy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs764131110
- ClinGen CA241600
- ClinVar RCV000175816
- ClinVar RCV002478570
- Uncertain significance
- Schizophrenia; Thrombophilia due to thrombin defect; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Schizophrenia; Thrombophilia due to thrombin defect; Homocystinu)
- EBI: Variant of uncertain significance (in MTHFRD)
- UniProt: Uncertain significance (in MTHFRD)
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)