A18T (p.Ala18Thr) variant of AXL (P30530)
A18T (p.Ala18Thr) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 19-41219444-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available