L439P (p.Leu439Pro) variant of MTHFR (P42898)
L439P (p.Leu439Pro) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Neural tube defects, folate-sensitive; Schizophrenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L439P (p.Leu439Pro) variant details
- p.Leu439Pro
- rs545086633
- ClinGen CA18000968
- ClinVar RCV001420163
- ClinVar RCV003463041
- Likely pathogenic
- not provided; Neural tube defects, folate-sensitive; Schizophrenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Neural tube defects, folate-sensitive; Schizophren)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)