R51G (p.Arg51Gly) variant of MTHFR (P42898)
R51G (p.Arg51Gly) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs764131110
- ClinGen CA338423060
- ClinVar RCV002892532
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in MTHFRD)
- UniProt: Uncertain significance (in MTHFRD)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)