R7S (p.Arg7Ser) variant of AXL (P30530)
R7S (p.Arg7Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 19-41219413-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available