A6P (p.Ala6Pro) variant of AIP (AH receptor-interacting protein)
A6P (p.Ala6Pro) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD 11-67483174-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.38
- CADD 24.20
- PolyPhen-2 0.55
- SIFT 0.33
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available