W99C (p.Trp99Cys) variant of IFT172 (Q9UG01)
W99C (p.Trp99Cys) 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 0.57 / 1. The record also includes structural context.
W99C (p.Trp99Cys) variant details
- p.Trp99Cys
- rs2148557687
- ClinGen CA346402058
- ClinVar RCV001968367
- Ensembl rs2148557687
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available