S18L (p.Ser18Leu) variant of SOX2 (Transcription factor SOX-2)
S18L (p.Ser18Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- gnomAD 3-181712413-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.31
- MetaLR 0.82
- MetaSVM 0.31
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004
- Literature evidence available