Q15H (p.Gln15His) variant of SOX2 (Transcription factor SOX-2)
Q15H (p.Gln15His) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q15H (p.Gln15His) variant details
- p.Gln15His
- gnomAD 3-181712405-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.43
- MetaLR 0.91
- MetaSVM 0.56
- CADD 24.70
- PolyPhen-2 0.69
- SIFT 0.09
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0459
- Literature evidence available