P11Q (p.Pro11Gln) variant of SOX2 (Transcription factor SOX-2)
P11Q (p.Pro11Gln) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- gnomAD 3-181712392-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.50
- MetaLR 0.79
- MetaSVM 0.52
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.02
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.469
- Literature evidence available