F59L (p.Phe59Leu) variant of MMACHC (Q9Y4U1)
F59L (p.Phe59Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
F59L (p.Phe59Leu) variant details
- p.Phe59Leu
- ExAC rs778133848
- gnomAD rs778133848
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available