F66L (p.Phe66Leu) variant of MMACHC (Q9Y4U1)
F66L (p.Phe66Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- gnomAD 1-45507472-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.78
- CADD 24.20
- PolyPhen-2 0.70
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available