A28T (p.Ala28Thr) variant of IRAG1 (Q9Y6F6)
A28T (p.Ala28Thr) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs34302310
- ClinGen CA5884677
- ClinVar RCV000947326
- UniProt VAR 056943
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.12
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in dbSNP:rs34302310)
- UniProt: Benign (in dbSNP:rs34302310)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available