T80M (p.Thr80Met) variant of IRAG1 (Q9Y6F6)
T80M (p.Thr80Met) 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 0.33 / 1. The record also includes population frequency data and structural context.
T80M (p.Thr80Met) variant details
- p.Thr80Met
- rs754927600
- ClinGen CA5884618
- cosmic curated COSV10534
- ClinVar RCV004403149
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.11
- MetaLR 0.11
- MetaSVM -0.93
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available