L17S (p.Leu17Ser) variant of AXL (P30530)
L17S (p.Leu17Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD 19-41219442-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available