D51E (p.Asp51Glu) variant of IFT172 (Q9UG01)
D51E (p.Asp51Glu) 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 0.38 / 1. The record also includes population frequency data and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- rs537341371
- ClinGen CA1581112
- ClinVar RCV001351973
- 1000Genomes rs537341371
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.05
- 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 1KG:MSL population (allele frequency 0.0063)
- Structural context available