T16K (p.Thr16Lys) variant of ALK (ALK tyrosine kinase receptor)
T16K (p.Thr16Lys) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T16K (p.Thr16Lys) variant details
- p.Thr16Lys
- 1000Genomes rs542229113
- ExAC rs542229113
- gnomAD rs542229113
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.02
- MetaLR 0.15
- MetaSVM -1.00
- CADD 4.52
- PolyPhen-2 0.00
- SIFT 0.37
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available