K16M (p.Lys16Met) variant of SOX9 (Transcription factor SOX-9)
K16M (p.Lys16Met) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar 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 0.77 / 1. The record also includes population frequency data and structural context.
K16M (p.Lys16Met) variant details
- p.Lys16Met
- TOPMed rs1404583942
- gnomAD rs1404583942
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.78
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available