S54F (p.Ser54Phe) variant of IFT172 (Q9UG01)
S54F (p.Ser54Phe) 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 0.49 / 1. The record also includes structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- rs1668685307
- ClinGen CA346403005
- ClinVar RCV002630791
- TOPMed rs1668685307
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.53
- MetaLR 0.32
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available