I5N (p.Ile5Asn) variant of AIP (AH receptor-interacting protein)
I5N (p.Ile5Asn) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- gnomAD 11-67483172-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- MetaLR 0.65
- MetaSVM 0.47
- CADD 25.10
- PolyPhen-2 0.30
- SIFT 0.30
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available