V54I (p.Val54Ile) variant of SOX10 (Transcription factor SOX-10)
V54I (p.Val54Ile) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- gnomAD rs1202924491
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.16
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.33
- Population evidence available
- Structural context available