N28S (p.Asn28Ser) variant of IFT172 (Q9UG01)
N28S (p.Asn28Ser) 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; Bardet-Biedl syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- ExAC rs750235850
- TOPMed rs750235850
- gnomAD rs750235850
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- CADD 21.30
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Bar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available