R136H (p.Arg136His) variant of IFT172 (Q9UG01)
R136H (p.Arg136His) 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 0.74 / 1. The record also includes population frequency data and structural context.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs763923637
- ClinGen CA1580986
- ClinVar RCV001338543
- ExAC rs763923637
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.70
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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 REMAINING population (allele frequency 0.00048)
- Structural context available