G13D (p.Gly13Asp) variant of SOX2 (Transcription factor SOX-2)
G13D (p.Gly13Asp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- Ensembl rs1714835287
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- MetaLR 0.78
- MetaSVM 0.67
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.147