D30G (p.Asp30Gly) variant of AIP (AH receptor-interacting protein)
D30G (p.Asp30Gly) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- rs2134247808
- ClinGen CA381545880
- ClinVar RCV001988380
- Ensembl rs2134247808
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.21
- MetaLR 0.61
- MetaSVM 0.20
- SIFT 0.44
- MutPred 0.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available