L134F (p.Leu134Phe) variant of SOX10 (Transcription factor SOX-10)
L134F (p.Leu134Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
L134F (p.Leu134Phe) variant details
- p.Leu134Phe
- rs1164043046
- ClinGen CA411500133
- ClinVar RCV003405198
- gnomAD rs1164043046
- Likely pathogenic
- Waardenburg syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Waardenburg syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available