E57K (p.Glu57Lys) variant of SOX10 (Transcription factor SOX-10)
E57K (p.Glu57Lys) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs377075961
- ClinGen CA10228721
- cosmic curated COSV10647
- ClinVar RCV001891516
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.24
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available