L326R (p.Leu326Arg) variant of IRAG1 (Q9Y6F6)
L326R (p.Leu326Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
L326R (p.Leu326Arg) variant details
- p.Leu326Arg
- rs200197925
- ClinGen CA5884335
- cosmic curated COSV10611
- ClinVar RCV004403116
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.10
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available