V94I (p.Val94Ile) variant of SOX10 (Transcription factor SOX-10)
V94I (p.Val94Ile) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V94I (p.Val94Ile) variant details
- p.Val94Ile
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- TOPMed rs1932467025
- gnomAD rs1932467025
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.50
- CADD 22.70
- PolyPhen-2 0.78
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available