E6D (p.Glu6Asp) variant of SOX2 (Transcription factor SOX-2)
E6D (p.Glu6Asp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- Ensembl rs2108521290
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.49
- MetaLR 0.86
- MetaSVM 0.73
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841