G20D (p.Gly20Asp) variant of SOX2 (Transcription factor SOX-2)
G20D (p.Gly20Asp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- Ensembl rs2108521416
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.57
- MetaLR 0.90
- MetaSVM 0.91
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.155