D60V (p.Asp60Val) variant of SOX10 (Transcription factor SOX-10)
D60V (p.Asp60Val) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D60V (p.Asp60Val) variant details
- p.Asp60Val
- gnomAD rs1350814508
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.02
- Population evidence available
- Structural context available