I13S (p.Ile13Ser) variant of AIP (AH receptor-interacting protein)
I13S (p.Ile13Ser) in AIP (AH receptor-interacting protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I13S (p.Ile13Ser) variant details
- p.Ile13Ser
- gnomAD 11-67483194-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 28.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available