G13C (p.Gly13Cys) variant of SOX2 (Transcription factor SOX-2)
G13C (p.Gly13Cys) 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.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 3-181712397-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.54
- MetaLR 0.79
- MetaSVM 0.88
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.147
- Literature evidence available