R16L (p.Arg16Leu) variant of AIP (AH receptor-interacting protein)
R16L (p.Arg16Leu) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- gnomAD 11-67483205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- MetaLR 0.59
- MetaSVM 0.06
- CADD 24.80
- PolyPhen-2 0.11
- SIFT 0.37
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available