C120Y (p.Cys120Tyr) variant of MTHFR (P42898)
C120Y (p.Cys120Tyr) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
C120Y (p.Cys120Tyr) variant details
- p.Cys120Tyr
- ExAC rs774066396
- gnomAD rs774066396
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.72
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available