C120W (p.Cys120Trp) variant of MTHFR (P42898)
C120W (p.Cys120Trp) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C120W (p.Cys120Trp) variant details
- p.Cys120Trp
- 1000Genomes rs576446829
- TOPMed rs576446829
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.74
- CADD 23.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available