D34G (p.Asp34Gly) variant of SOX10 (Transcription factor SOX-10)
D34G (p.Asp34Gly) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- rs2145777610
- ClinGen CA411502115
- ClinVar RCV002214256
- Ensembl rs2145777610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available