R41G (p.Arg41Gly) variant of ALK (ALK tyrosine kinase receptor)
R41G (p.Arg41Gly) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- gnomAD rs878854653
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- MetaLR 0.29
- MetaSVM -0.63
- CADD 24.40
- PolyPhen-2 0.25
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available