G61D (p.Gly61Asp) variant of SOX10 (Transcription factor SOX-10)
G61D (p.Gly61Asp) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G61D (p.Gly61Asp) variant details
- p.Gly61Asp
- ExAC rs748667317
- gnomAD rs748667317
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.56
- Population evidence available
- Structural context available