Y119F (p.Tyr119Phe) variant of MTHFR (P42898)
Y119F (p.Tyr119Phe) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Y119F (p.Tyr119Phe) variant details
- p.Tyr119Phe
- TOPMed rs1276034428
- gnomAD rs1276034428
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available