R68Q (p.Arg68Gln) variant of MTHFR (P42898)
R68Q (p.Arg68Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to thrombin defect; Homocystinuria due to methylene tetrahydro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- rs2066472
- ClinGen CA595725
- cosmic curated COSV10041
- ClinVar RCV001958245
- Uncertain significance
- Thrombophilia due to thrombin defect; Homocystinuria due to methylene tetrahydro
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.69
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Thrombophilia due to thrombin defect; Homocystinuria due to meth)
- EBI: Variant of uncertain significance (in dbSNP:rs2066472)
- UniProt: Uncertain significance (in dbSNP:rs2066472)
- Most common in the Latino/Admixed American population (allele frequency 0.0031)
- Structural context available
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)
- Cited in: Prothrombin Thrombophilia. (PMID 20301327)