E62K (p.Glu62Lys) variant of SOX10 (Transcription factor SOX-10)
E62K (p.Glu62Lys) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available