E283K (p.Glu283Lys) variant of IRAG1 (Q9Y6F6)
E283K (p.Glu283Lys) in IRAG1 (Q9Y6F6) 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 0.28 / 1. The record also includes population frequency data and structural context.
E283K (p.Glu283Lys) variant details
- p.Glu283Lys
- rs368660909
- NCI-TCGA Cosmic COSV7021
- cosmic curated COSV70213
- ESP rs368660909
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- AlphaMissense 0.58
- MetaLR 0.13
- MetaSVM -1.05
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available