I18L (p.Ile18Leu) variant of AIP (AH receptor-interacting protein)
I18L (p.Ile18Leu) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- rs1394024916
- NCI-TCGA Cosmic COSV5415
- TOPMed rs1394024916
- gnomAD rs1394024916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- MetaLR 0.33
- MetaSVM -0.68
- CADD 17.40
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available