S78L (p.Ser78Leu) variant of MTHFR (P42898)
S78L (p.Ser78Leu) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S78L (p.Ser78Leu) variant details
- p.Ser78Leu
- ExAC rs776969786
- TOPMed rs776969786
- gnomAD rs776969786
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.61
- CADD 24.70
- PolyPhen-2 0.16
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available