L129P (p.Leu129Pro) variant of SOX10 (Transcription factor SOX-10)
L129P (p.Leu129Pro) 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 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L129P (p.Leu129Pro) variant details
- p.Leu129Pro
- rs1932462410
- ClinGen CA411500214
- ClinVar RCV001290171
- Ensembl rs1932462410
- Likely pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2E)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available