K55E (p.Lys55Glu) variant of SOX10 (Transcription factor SOX-10)
K55E (p.Lys55Glu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- gnomAD rs1340193662
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.65
- Population evidence available
- Structural context available