S114G (p.Ser114Gly) variant of MTHFR (P42898)
S114G (p.Ser114Gly) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S114G (p.Ser114Gly) variant details
- p.Ser114Gly
- rs1199277582
- ClinGen CA338422496
- ClinVar RCV004523875
- TOPMed rs1199277582
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-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)