P29T (p.Pro29Thr) variant of SOX10 (Transcription factor SOX-10)
P29T (p.Pro29Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- rs1489956199
- ClinGen CA411502165
- ClinVar RCV001767130
- TOPMed rs1489956199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.21
- CADD 21.50
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available