N88S (p.Asn88Ser) variant of IFT172 (Q9UG01)
N88S (p.Asn88Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
N88S (p.Asn88Ser) variant details
- p.Asn88Ser
- rs1443634104
- ClinGen CA346402434
- ClinVar RCV001209261
- ClinVar RCV004738191
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.14
- 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 REMAINING population (allele frequency 0.00048)
- Structural context available