F435S (p.Phe435Ser) variant of MTHFR (P42898)
F435S (p.Phe435Ser) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neural tube defects, folate-sensitive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
F435S (p.Phe435Ser) variant details
- p.Phe435Ser
- rs754015864
- ClinGen CA595397
- ClinVar RCV003461971
- ClinVar RCV004731535
- Likely pathogenic
- Neural tube defects, folate-sensitive
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Neural tube defects, folate-sensitive)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase… (PMID 20236116)
- Cited in: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID 25818041)