F46L (p.Phe46Leu) variant of MBP (Myelin basic protein)
F46L (p.Phe46Leu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- cosmic curated COSV10059
- ESP rs377221551
- ExAC rs377221551
- TOPMed rs377221551
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.24
- CADD 17.60
- PolyPhen-2 0.90
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available