T116I (p.Thr116Ile) variant of IFT172 (Q9UG01)
T116I (p.Thr116Ile) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T116I (p.Thr116Ile) variant details
- p.Thr116Ile
- rs751230602
- ClinGen CA1581010
- ClinVar RCV001054122
- ExAC rs751230602
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.80
- SIFT 0.12
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available