F68L (p.Phe68Leu) variant of SOX10 (Transcription factor SOX-10)
F68L (p.Phe68Leu) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Waardenburg syndrome; PCWH syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- ExAC rs751332955
- TOPMed rs751332955
- gnomAD rs751332955
- Uncertain significance
- Waardenburg syndrome; PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Uncertain significance (Waardenburg syndrome; PCWH syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available