Q111R (p.Gln111Arg) variant of IFT172 (Q9UG01)
Q111R (p.Gln111Arg) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q111R (p.Gln111Arg) variant details
- p.Gln111Arg
- rs1423053908
- ClinGen CA346401790
- ClinVar RCV002979487
- TOPMed rs1423053908
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.53
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available