P69S (p.Pro69Ser) variant of SOX10 (Transcription factor SOX-10)
P69S (p.Pro69Ser) 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 0.70 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- ExAC rs763813431
- gnomAD rs763813431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available