V15M (p.Val15Met) variant of SOX10 (Transcription factor SOX-10)
V15M (p.Val15Met) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- TOPMed rs1282410687
- gnomAD rs1282410687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available