E6V (p.Glu6Val) variant of SOX2 (Transcription factor SOX-2)
E6V (p.Glu6Val) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E6V (p.Glu6Val) variant details
- p.Glu6Val
- gnomAD 3-181712377-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.80
- MetaLR 0.93
- MetaSVM 1.05
- CADD 28.20
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841
- Literature evidence available