G49S (p.Gly49Ser) variant of SOX10 (Transcription factor SOX-10)
G49S (p.Gly49Ser) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- gnomAD rs1223421300
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available