R168C (p.Arg168Cys) variant of IRAG1 (Q9Y6F6)
R168C (p.Arg168Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
R168C (p.Arg168Cys) variant details
- p.Arg168Cys
- rs769411998
- NCI-TCGA Cosmic COSV7021
- cosmic curated COSV70210
- ExAC rs769411998
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.70
- MetaLR 0.26
- MetaSVM -0.54
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available