Q26H (p.Gln26His) variant of IFT172 (Q9UG01)
Q26H (p.Gln26His) 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 0.16 / 1. The record also includes population frequency data and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- rs1425471550
- ClinGen CA346403772
- ClinVar RCV002741923
- gnomAD rs1425471550
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available