P186L (p.Pro186Leu) variant of IRAG1 (Q9Y6F6)
P186L (p.Pro186Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
P186L (p.Pro186Leu) variant details
- p.Pro186Leu
- rs540790831
- ClinGen CA5884496
- cosmic curated COSV10944
- ClinVar RCV004302279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.10
- SIFT 0.02
- MutPred 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs35857561)
- UniProt: Uncertain significance (in dbSNP:rs35857561)
- Population evidence available
- Structural context available