G12R (p.Gly12Arg) variant of AIP (AH receptor-interacting protein)
G12R (p.Gly12Arg) in AIP (AH receptor-interacting protein) 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 0.85 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs745693426
- ClinGen CA6140669
- ClinVar RCV002589565
- ExAC rs745693426
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.85
- MetaLR 0.85
- MetaSVM 0.84
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available