D27N (p.Asp27Asn) variant of AIP (AH receptor-interacting protein)
D27N (p.Asp27Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- TOPMed rs1024903808
- gnomAD rs1024903808
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- MetaLR 0.51
- MetaSVM -0.62
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available