C1727R (p.Cys1727Arg) variant of IFT172 (Q9UG01)
C1727R (p.Cys1727Arg) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
C1727R (p.Cys1727Arg) variant details
- p.Cys1727Arg
- rs149614625
- ClinGen CA149722
- ClinVar RCV000083268
- ClinVar RCV001228000
- Pathogenic
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.60
- CADD 28.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Pathogenic (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Pathogenic (in SRTD10)
- UniProt: Pathogenic (in SRTD10)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Visual loss as the presenting sign of Jeune syndrome. (PMID 11030072)
- Cited in: Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (PMID 24140113)