N243S (p.Asn243Ser) variant of IRAG1 (Q9Y6F6)
N243S (p.Asn243Ser) 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.
N243S (p.Asn243Ser) variant details
- p.Asn243Ser
- rs200550099
- ClinGen CA5884391
- cosmic curated COSV70210
- ClinVar RCV004312787
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.03
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available