A2V (p.Ala2Val) variant of SOX10 (Transcription factor SOX-10)
A2V (p.Ala2Val) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1186044024
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available