T40P (p.Thr40Pro) variant of AIP (AH receptor-interacting protein)
T40P (p.Thr40Pro) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T40P (p.Thr40Pro) variant details
- p.Thr40Pro
- ExAC rs756367051
- gnomAD rs756367051
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- MetaLR 0.74
- MetaSVM 0.52
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available