F65L (p.Phe65Leu) variant of MTHFR (P42898)
F65L (p.Phe65Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F65L (p.Phe65Leu) variant details
- p.Phe65Leu
- TOPMed rs1305385953
- gnomAD rs1305385953
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available