L9P (p.Leu9Pro) variant of SOX2 (Transcription factor SOX-2)
L9P (p.Leu9Pro) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD 3-181712386-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.75
- MetaLR 0.92
- MetaSVM 1.04
- CADD 29.70
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.808
- Literature evidence available