E6K (p.Glu6Lys) variant of SOX2 (Transcription factor SOX-2)
E6K (p.Glu6Lys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- gnomAD 3-181712376-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.82
- MetaLR 0.91
- MetaSVM 1.04
- CADD 29.00
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841
- Literature evidence available