E18K (p.Glu18Lys) variant of IFNGR1 (Interferon gamma receptor 1)
E18K (p.Glu18Lys) in IFNGR1 (Interferon gamma receptor 1) 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 0.22 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- rs868340562
- NCI-TCGA Cosmic COSV1008
- Ensembl rs868340562
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.15
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.67
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available