L9V (p.Leu9Val) variant of ALK (ALK tyrosine kinase receptor)
L9V (p.Leu9Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- gnomAD rs1335279051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.06
- MetaLR 0.38
- MetaSVM -0.59
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available