L11F (p.Leu11Phe) variant of MTHFR (P42898)
L11F (p.Leu11Phe) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- ExAC rs768905024
- gnomAD rs768905024
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.25
- CADD 5.45
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available