A18S (p.Ala18Ser) variant of AXL (P30530)
A18S (p.Ala18Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 19-41219444-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.72
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available