K173E (p.Lys173Glu) variant of SOX9 (Transcription factor SOX-9)
K173E (p.Lys173Glu) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
K173E (p.Lys173Glu) variant details
- p.Lys173Glu
- rs104894647
- ClinGen CA115585
- ClinVar RCV000002618
- ClinVar RCV003497831
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Acampomelic campomelic dysplasia with SOX9 mutation. (PMID 10951468)
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)