Q15L (p.Gln15Leu) variant of SOX2 (Transcription factor SOX-2)
Q15L (p.Gln15Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q15L (p.Gln15Leu) variant details
- p.Gln15Leu
- gnomAD 3-181712404-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.46
- MetaLR 0.82
- MetaSVM 0.12
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.09
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0459
- Literature evidence available