K33N (p.Lys33Asn) variant of AIP (AH receptor-interacting protein)
K33N (p.Lys33Asn) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- gnomAD 11-67483257-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.75
- MetaLR 0.74
- MetaSVM 0.61
- CADD 34.00
- PolyPhen-2 0.24
- SIFT 0.17
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available