I11V (p.Ile11Val) variant of IRAG1 (Q9Y6F6)
I11V (p.Ile11Val) in IRAG1 (Q9Y6F6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- rs4909945
- cosmic curated COSV70210
- UniProt VAR 056942
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 12.20
- SIFT 0.95
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- 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)