R35H (p.Arg35His) variant of IRAG1 (Q9Y6F6)
R35H (p.Arg35His) 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 0.29 / 1. The record also includes population frequency data and structural context.
R35H (p.Arg35His) variant details
- p.Arg35His
- rs765612867
- ClinGen CA5884667
- NCI-TCGA Cosmic COSV7021
- cosmic curated COSV70212
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.00
- SIFT 0.03
- MutPred 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available