K33K (p.Lys33Lys) variant of AIP (AH receptor-interacting protein)
K33K (p.Lys33Lys) in AIP (AH receptor-interacting protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K33K (p.Lys33Lys) variant details
- p.Lys33Lys
- rs755881873
- gnomAD 11-67483257-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 24.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available