T35P (p.Thr35Pro) variant of IFT172 (Q9UG01)
T35P (p.Thr35Pro) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T35P (p.Thr35Pro) variant details
- p.Thr35Pro
- ExAC rs761913977
- gnomAD rs761913977
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available