P6S (p.Pro6Ser) variant of AXL (P30530)
P6S (p.Pro6Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- gnomAD 19-41219408-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- CADD 7.98
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available