G17V (p.Gly17Val) variant of SOX9 (Transcription factor SOX-9)
G17V (p.Gly17Val) 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 0.58 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- ExAC rs762942282
- TOPMed rs762942282
- gnomAD rs762942282
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.45
- MetaLR 0.80
- MetaSVM 0.54
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available