D51G (p.Asp51Gly) variant of AIP (AH receptor-interacting protein)
D51G (p.Asp51Gly) 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 0.90 / 1. The record also includes structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- rs2134251103
- ClinGen CA381546623
- ClinVar RCV002850986
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.95
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available