E4Q (p.Glu4Gln) variant of MTHFR (P42898)
E4Q (p.Glu4Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- ExAC rs772252042
- TOPMed rs772252042
- gnomAD rs772252042
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.32
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available