T69A (p.Thr69Ala) variant of MTHFR (P42898)
T69A (p.Thr69Ala) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T69A (p.Thr69Ala) variant details
- p.Thr69Ala
- ExAC rs770151367
- gnomAD rs770151367
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.87
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available