A47S (p.Ala47Ser) variant of AXL (P30530)
A47S (p.Ala47Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- gnomAD rs2033774057
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available