K166N (p.Lys166Asn) variant of SOX9 (Transcription factor SOX-9)
K166N (p.Lys166Asn) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Camptomelic dysplasia. The record also includes structural context.
K166N (p.Lys166Asn) variant details
- p.Lys166Asn
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99818
- Ensembl rs2143245733
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- UniProt: Likely pathogenic
- Structural context available