K150E (p.Lys150Glu) variant of SOX10 (Transcription factor SOX-10)
K150E (p.Lys150Glu) 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 0.88 / 1. The record also includes population frequency data and structural context.
K150E (p.Lys150Glu) variant details
- p.Lys150Glu
- rs1932280017
- ClinGen CA411498132
- ClinVar RCV001729954
- Ensembl rs1932280017
- Pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Waardenburg syndrome type 4C)
- EBI: Pathogenic (in PCWH)
- UniProt: Pathogenic (in PCWH)
- Population evidence available
- Structural context available