T112P (p.Thr112Pro) variant of IFT172 (Q9UG01)
T112P (p.Thr112Pro) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T112P (p.Thr112Pro) variant details
- p.Thr112Pro
- ExAC rs768864867
- gnomAD rs768864867
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available