Q289H (p.Gln289His) variant of IRAG1 (Q9Y6F6)
Q289H (p.Gln289His) 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.
Q289H (p.Gln289His) variant details
- p.Gln289His
- rs34398944
- ClinGen CA5884317
- ClinVar RCV000968672
- UniProt VAR 056946
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- AlphaMissense 0.14
- MetaLR 0.00
- MetaSVM -1.09
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in dbSNP:rs34398944)
- UniProt: Benign (in dbSNP:rs34398944)
- Population evidence available
- Structural context available