I44N (p.Ile44Asn) variant of AXL (P30530)
I44N (p.Ile44Asn) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I44N (p.Ile44Asn) variant details
- p.Ile44Asn
- gnomAD 19-41220681-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.41
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available