Y124F (p.Tyr124Phe) variant of IFT172 (Q9UG01)
Y124F (p.Tyr124Phe) 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 record also includes structural context.
Y124F (p.Tyr124Phe) variant details
- p.Tyr124Phe
- rs2466028359
- ClinGen CA346401322
- ClinVar RCV003794204
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available