S603C (p.Ser603Cys) variant of MTHFR (P42898)
S603C (p.Ser603Cys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S603C (p.Ser603Cys) variant details
- p.Ser603Cys
- rs758206023
- ClinGen CA198658
- ClinVar RCV000167624
- ExAC rs758206023
- Pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.53
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available