S24A (p.Ser24Ala) variant of SOX10 (Transcription factor SOX-10)
S24A (p.Ser24Ala) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S24A (p.Ser24Ala) variant details
- p.Ser24Ala
- TOPMed rs1368575089
- gnomAD rs1368575089
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available