P12T (p.Pro12Thr) variant of AXL (P30530)
P12T (p.Pro12Thr) 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.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 19-41219426-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- CADD 8.20
- PolyPhen-2 0.10
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available