H1567Q (p.His1567Gln) variant of IFT172 (Q9UG01)
H1567Q (p.His1567Gln) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of IFT172-related disorder; 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.
H1567Q (p.His1567Gln) variant details
- p.His1567Gln
- rs786205855
- ClinGen CA199770
- ClinVar RCV002508142
- ClinVar RCV003765075
- Pathogenic/Likely pathogenic
- IFT172-related disorder; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.75
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (IFT172-related disorder; Short-rib thoracic dysplasia 10 with or)
- EBI: Pathogenic (in BBS20)
- UniProt: Pathogenic (in BBS20)
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Cited in: Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (PMID 25168386)
- Cited in: Bardet-Biedl syndrome and related disorders in Japan. (PMID 32451492)