T55S (p.Thr55Ser) variant of IFT172 (Q9UG01)
T55S (p.Thr55Ser) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of IFT172-related disorder. 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.
T55S (p.Thr55Ser) variant details
- p.Thr55Ser
- rs746462745
- ClinGen CA1581109
- ClinVar RCV004554128
- ExAC rs746462745
- Uncertain significance
- IFT172-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- CADD 25.50
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (IFT172-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available