R267H (p.Arg267His) variant of IRAG1 (Q9Y6F6)
R267H (p.Arg267His) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
R267H (p.Arg267His) variant details
- p.Arg267His
- rs565811419
- ClinGen CA5884374
- ClinVar RCV004403159
- ExAC rs565811419
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.10
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available