L160P (p.Leu160Pro) variant of SOX10 (Transcription factor SOX-10)
L160P (p.Leu160Pro) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Waardenburg syndrome type 4C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
L160P (p.Leu160Pro) variant details
- p.Leu160Pro
- rs1482985217
- ClinGen CA411497993
- ClinVar RCV001170065
- ClinVar RCV003339524
- Pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Waardenburg syndrome type 4C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available