M111T (p.Met111Thr) variant of MTHFR (P42898)
M111T (p.Met111Thr) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M111T (p.Met111Thr) variant details
- p.Met111Thr
- ExAC rs756962297
- gnomAD rs756962297
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.27
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available