G17D (p.Gly17Asp) variant of MTHFR (P42898)
G17D (p.Gly17Asp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- Ensembl rs1570498463
- Uncertain significance
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.56
- CADD 20.60
- PolyPhen-2 0.55
- SIFT 0.57
- ClinVar: Uncertain significance (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available