A192V (p.Ala192Val) variant of IRAG1 (Q9Y6F6)
A192V (p.Ala192Val) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A192V (p.Ala192Val) variant details
- p.Ala192Val
- rs1175691966
- NCI-TCGA Cosmic COSV7021
- cosmic curated COSV70210
- TOPMed rs1175691966
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.15
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available