R38G (p.Arg38Gly) variant of IFT172 (Q9UG01)
R38G (p.Arg38Gly) 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 0.46 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs139021548
- ClinGen CA1581119
- ClinVar RCV002957697
- ClinVar RCV004725425
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.42
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available