S66N (p.Ser66Asn) variant of IFT172 (Q9UG01)
S66N (p.Ser66Asn) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of IFT172-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- gnomAD rs1337472006
- Uncertain significance
- IFT172-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.16
- CADD 23.60
- PolyPhen-2 0.93
- SIFT 0.05
- ClinVar: Uncertain significance (IFT172-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available