F40L (p.Phe40Leu) variant of MSI1 (O43347)
F40L (p.Phe40Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- Ensembl rs2136995757
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.56
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available