S24Y (p.Ser24Tyr) variant of SOX10 (Transcription factor SOX-10)
S24Y (p.Ser24Tyr) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S24Y (p.Ser24Tyr) variant details
- p.Ser24Tyr
- rs1339336077
- ClinGen CA411502204
- ClinVar RCV000825458
- ClinVar RCV002290474
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.52
- CADD 25.90
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available