R1544C (p.Arg1544Cys) variant of IFT172 (Q9UG01)
R1544C (p.Arg1544Cys) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R1544C (p.Arg1544Cys) variant details
- p.Arg1544Cys
- rs587777079
- ClinGen CA149724
- NCI-TCGA Cosmic COSV5313
- ClinVar RCV000083270
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.41
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (IFT172-related disorder)
- EBI: Pathogenic (in SRTD10)
- UniProt: Pathogenic (in SRTD10)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (PMID 24140113)
- Cited in: Joubert Syndrome. (PMID 20301500)