G22D (p.Gly22Asp) variant of SOX2 (Transcription factor SOX-2)
G22D (p.Gly22Asp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- Ensembl rs2108521437
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.28
- MetaLR 0.74
- MetaSVM 0.36
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.219