L146F (p.Leu146Phe) variant of ABCC6 (O95255)
L146F (p.Leu146Phe) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L146F (p.Leu146Phe) variant details
- p.Leu146Phe
- TOPMed rs1480330108
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available