C243G (p.Cys243Gly) variant of MTHFR (P42898)
C243G (p.Cys243Gly) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to thrombin defect; Neural tube defects, folate-sensitive; Hom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C243G (p.Cys243Gly) variant details
- p.Cys243Gly
- ExAC rs760971789
- gnomAD rs760971789
- Likely pathogenic
- Thrombophilia due to thrombin defect; Neural tube defects, folate-sensitive; Hom
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.90
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia due to thrombin defect; Neural tube defects, folat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available