P12S (p.Pro12Ser) variant of AXL (P30530)
P12S (p.Pro12Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 19-41219426-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- CADD 7.42
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available