E56Q (p.Glu56Gln) variant of IRAG1 (Q9Y6F6)
E56Q (p.Glu56Gln) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. 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.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- rs35135063
- ClinGen CA5884652
- cosmic curated COSV70210
- ClinVar RCV003397922
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.88
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available