A23V (p.Ala23Val) variant of AXL (P30530)
A23V (p.Ala23Val) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- cosmic curated COSV99997
- ExAC rs754135882
- TOPMed rs754135882
- gnomAD rs754135882
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- CADD 8.05
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available