I4N (p.Ile4Asn) variant of ALK (ALK tyrosine kinase receptor)
I4N (p.Ile4Asn) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I4N (p.Ile4Asn) variant details
- p.Ile4Asn
- Ensembl rs2148444177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.06
- MetaLR 0.23
- MetaSVM -0.93
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available