T40R (p.Thr40Arg) variant of AIP (AH receptor-interacting protein)
T40R (p.Thr40Arg) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
T40R (p.Thr40Arg) variant details
- p.Thr40Arg
- ESP rs142044984
- TOPMed rs142044984
- gnomAD rs142044984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- MetaLR 0.76
- MetaSVM 0.69
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available