P12P (p.Pro12Pro) variant of SOX2 (Transcription factor SOX-2)
P12P (p.Pro12Pro) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- gnomAD 3-181712396-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 15.50
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16
- Literature evidence available