K56E (p.Lys56Glu) variant of SOX10 (Transcription factor SOX-10)
K56E (p.Lys56Glu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- cosmic curated COSV10647
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.36
- SIFT 0.26
- Population evidence available
- Structural context available