F53I (p.Phe53Ile) variant of IFT172 (Q9UG01)
F53I (p.Phe53Ile) 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 0.48 / 1. The record also includes population frequency data and structural context.
F53I (p.Phe53Ile) variant details
- p.Phe53Ile
- rs776310391
- ClinGen CA1581111
- ClinVar RCV004554132
- ExAC rs776310391
- Uncertain significance
- IFT172-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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