F109L (p.Phe109Leu) variant of IFT172 (Q9UG01)
F109L (p.Phe109Leu) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F109L (p.Phe109Leu) variant details
- p.Phe109Leu
- gnomAD rs762960466
- Uncertain significance
- Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.30
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available