P337L (p.Pro337Leu) variant of IRAG1 (Q9Y6F6)
P337L (p.Pro337Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
P337L (p.Pro337Leu) variant details
- p.Pro337Leu
- rs371956442
- ClinGen CA5884327
- cosmic curated COSV70210
- ClinVar RCV004299191
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available