I89V (p.Ile89Val) variant of IFT172 (Q9UG01)
I89V (p.Ile89Val) 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 record also includes structural context.
I89V (p.Ile89Val) variant details
- p.Ile89Val
- rs2466035250
- ClinGen CA346402425
- ClinVar RCV003025283
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available