A157T (p.Ala157Thr) variant of SOX10 (Transcription factor SOX-10)
A157T (p.Ala157Thr) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 4C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
A157T (p.Ala157Thr) variant details
- p.Ala157Thr
- gnomAD rs1269869887
- Likely pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- MetaLR 0.95
- MetaSVM 1.11
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4C)
- EBI: Likely pathogenic (in WS4C)
- UniProt: Likely pathogenic (in WS4C)
- Population evidence available
- Structural context available