D5E (p.Asp5Glu) variant of SOX9 (Transcription factor SOX-9)
D5E (p.Asp5Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- rs768210143
- ClinGen CA8738859
- ClinVar RCV002834196
- ExAC rs768210143
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.53
- MetaLR 0.93
- MetaSVM 1.02
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)