D29E (p.Asp29Glu) variant of SOX9 (Transcription factor SOX-9)
D29E (p.Asp29Glu) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- NCI-TCGA TCGA novel
- Ensembl rs2143236908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.49
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available