M26K (p.Met26Lys) variant of SOX9 (Transcription factor SOX-9)
M26K (p.Met26Lys) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
M26K (p.Met26Lys) variant details
- p.Met26Lys
- rs1908088001
- ClinGen CA400865462
- ClinVar RCV003062486
- TOPMed rs1908088001
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.38
- MetaLR 0.49
- MetaSVM 0.00
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)