R4L (p.Arg4Leu) variant of AXL (P30530)
R4L (p.Arg4Leu) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 19-41219403-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available