R54G (p.Arg54Gly) variant of AIP (AH receptor-interacting protein)
R54G (p.Arg54Gly) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- ExAC rs752553438
- TOPMed rs752553438
- gnomAD rs752553438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- MetaLR 0.76
- MetaSVM 0.37
- CADD 22.70
- PolyPhen-2 0.62
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available