E22K (p.Glu22Lys) variant of IL2RA (P01589)
E22K (p.Glu22Lys) in IL2RA (P01589) is a missense change. Clinical records from UniProt describe it as malignant lymphoma, large b-cell, diffuse. 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.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs267602536
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99906
- ClinVar RCV006033922
- Malignant lymphoma, large b-cell, diffuse
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- CADD 33.00
- PolyPhen-2 0.57
- SIFT 0.03
- UniProt: Malignant lymphoma, large b-cell, diffuse
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available