K15N (p.Lys15Asn) variant of AIP (AH receptor-interacting protein)
K15N (p.Lys15Asn) 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 0.65 / 1. The record also includes population frequency data and structural context.
K15N (p.Lys15Asn) variant details
- p.Lys15Asn
- rs1217286259
- ClinGen CA381545790
- ClinVar RCV003678374
- gnomAD rs1217286259
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.76
- MetaLR 0.85
- MetaSVM 0.77
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available