H2R (p.His2Arg) variant of IFT172 (Q9UG01)
H2R (p.His2Arg) 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 0.26 / 1. The record also includes population frequency data and structural context.
H2R (p.His2Arg) variant details
- p.His2Arg
- rs781257867
- ClinGen CA346404785
- ClinVar RCV002643483
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.32
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available