R413H (p.Arg413His) variant of IRAG1 (Q9Y6F6)
R413H (p.Arg413His) 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 0.26 / 1. The record also includes population frequency data and structural context.
R413H (p.Arg413His) variant details
- p.Arg413His
- rs747215099
- ClinGen CA5884280
- ClinVar RCV004403123
- ExAC rs747215099
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.08
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available