A14T (p.Ala14Thr) variant of AXL (P30530)
A14T (p.Ala14Thr) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- Ensembl rs112524750
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- CADD 24.50
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available