G23R (p.Gly23Arg) variant of AIP (AH receptor-interacting protein)
G23R (p.Gly23Arg) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- TOPMed rs1865727625
- gnomAD rs1865727625
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.89
- MetaLR 0.85
- MetaSVM 0.86
- CADD 28.40
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available