E123D (p.Glu123Asp) variant of MTHFR (P42898)
E123D (p.Glu123Asp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
E123D (p.Glu123Asp) variant details
- p.Glu123Asp
- gnomAD rs1314724398
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.51
- CADD 13.90
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available