L9M (p.Leu9Met) variant of SOX2 (Transcription factor SOX-2)
L9M (p.Leu9Met) 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.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- gnomAD 3-181712385-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.44
- MetaLR 0.91
- MetaSVM 0.95
- CADD 23.90
- PolyPhen-2 0.81
- SIFT 0.06
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.808
- Literature evidence available