Q16H (p.Gln16His) variant of SOX2 (Transcription factor SOX-2)
Q16H (p.Gln16His) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- gnomAD 3-181712408-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.32
- MetaLR 0.78
- MetaSVM 0.13
- CADD 17.50
- PolyPhen-2 0.12
- SIFT 0.66
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.217
- Literature evidence available