E8D (p.Glu8Asp) variant of SOX2 (Transcription factor SOX-2)
E8D (p.Glu8Asp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 3-181712384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.34
- MetaLR 0.64
- MetaSVM -0.17
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.113
- Literature evidence available