V10M (p.Val10Met) variant of SOX10 (Transcription factor SOX-10)
V10M (p.Val10Met) 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 0.55 / 1. The record also includes population frequency data and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- rs2518053043
- ClinGen CA411502423
- ClinVar RCV003696825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available