V70M (p.Val70Met) variant of SOX10 (Transcription factor SOX-10)
V70M (p.Val70Met) 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 0.53 / 1. The record also includes population frequency data and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs765329363
- cosmic curated COSV10966
- ExAC rs765329363
- TOPMed rs765329363
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.36
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available