S53N (p.Ser53Asn) variant of AIP (AH receptor-interacting protein)
S53N (p.Ser53Asn) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- gnomAD 11-67487064-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.78
- MetaLR 0.92
- MetaSVM 1.03
- CADD 24.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available