E292K (p.Glu292Lys) variant of IRAG1 (Q9Y6F6)
E292K (p.Glu292Lys) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E292K (p.Glu292Lys) variant details
- p.Glu292Lys
- rs766892331
- NCI-TCGA Cosmic COSV7021
- cosmic curated COSV70210
- ExAC rs766892331
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.08
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available