I411N (p.Ile411Asn) variant of IFT172 (Q9UG01)
I411N (p.Ile411Asn) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short-rib thoracic dysplasia 10 with or without polydactyly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
I411N (p.Ile411Asn) variant details
- p.Ile411Asn
- rs587777085
- ClinGen CA149733
- ClinVar RCV000083277
- UniProt VAR 070957
- Pathogenic
- Short-rib thoracic dysplasia 10 with or without polydactyly
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.96
- MetaLR 0.18
- MetaSVM -0.72
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Short-rib thoracic dysplasia 10 with or without polydactyly)
- EBI: Pathogenic (in SRTD10)
- UniProt: Pathogenic (in SRTD10)
- Structural context available
- Cited in: Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (PMID 24140113)