R57Q (p.Arg57Gln) variant of LAG3 (P18627)
R57Q (p.Arg57Gln) in LAG3 (P18627) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- NCI-TCGA TCGA novel
- TOPMed rs1941863994
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available