Q15K (p.Gln15Lys) variant of SOX2 (Transcription factor SOX-2)
Q15K (p.Gln15Lys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- gnomAD 3-181712403-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.34
- MetaLR 0.84
- MetaSVM -0.11
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.11
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0459
- Literature evidence available