T69I (p.Thr69Ile) variant of MTHFR (P42898)
T69I (p.Thr69Ile) 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 0.79 / 1. The record also includes population frequency data and structural context.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- ExAC rs746177570
- TOPMed rs746177570
- gnomAD rs746177570
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available