C34G (p.Cys34Gly) variant of IFT172 (Q9UG01)
C34G (p.Cys34Gly) 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.
C34G (p.Cys34Gly) variant details
- p.Cys34Gly
- rs2466038500
- ClinGen CA346403508
- ClinVar RCV002681221
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.54
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.02
- 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 Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available