S10T (p.Ser10Thr) variant of MTHFR (P42898)
S10T (p.Ser10Thr) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Homocystinuria due to methylene tetrahydr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- rs143428827
- ClinGen CA595758
- ClinVar RCV002610149
- ClinVar RCV004654143
- Conflicting interpretations
- not provided; Inborn genetic diseases; Homocystinuria due to methylene tetrahydr
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- CADD 13.60
- PolyPhen-2 0.05
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Homocystinuria due to met)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)