T7K (p.Thr7Lys) variant of SOX2 (Transcription factor SOX-2)
T7K (p.Thr7Lys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- gnomAD 3-181712380-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.64
- MetaLR 0.93
- MetaSVM 1.02
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16
- Literature evidence available