A14S (p.Ala14Ser) variant of AXL (P30530)
A14S (p.Ala14Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 19-41219432-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.22
- CADD 20.90
- PolyPhen-2 0.08
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available