C5W (p.Cys5Trp) variant of AXL (P30530)
C5W (p.Cys5Trp) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C5W (p.Cys5Trp) variant details
- p.Cys5Trp
- gnomAD 19-41219407-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available