A70T (p.Ala70Thr) variant of IRAG1 (Q9Y6F6)
A70T (p.Ala70Thr) in IRAG1 (Q9Y6F6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- rs2162044
- cosmic curated COSV10752
- 1000Genomes rs2162044
- ESP rs2162044
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -1.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Cited in: Mrvi1, a common MRV integration site in BXH2 myeloid leukemias, encodes a protein with homology to a… (PMID 10321731)
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)