F53L (p.Phe53Leu) variant of IFT172 (Q9UG01)
F53L (p.Phe53Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- rs768058682
- ClinGen CA1581110
- NCI-TCGA Cosmic COSV5313
- cosmic curated COSV53132
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- 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 Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available