T30K (p.Thr30Lys) variant of AXL (P30530)
T30K (p.Thr30Lys) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T30K (p.Thr30Lys) variant details
- p.Thr30Lys
- TOPMed rs891614619
- gnomAD rs891614619
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.08
- CADD 15.20
- PolyPhen-2 0.23
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available