P207L (p.Pro207Leu) variant of IRAG1 (Q9Y6F6)
P207L (p.Pro207Leu) 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.
P207L (p.Pro207Leu) variant details
- p.Pro207Leu
- rs373371120
- ClinGen CA5884478
- NCI-TCGA Cosmic COSV1013
- ClinVar RCV004403155
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available