T17N (p.Thr17Asn) variant of SOX2 (Transcription factor SOX-2)
T17N (p.Thr17Asn) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- gnomAD 3-181712410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.22
- MetaLR 0.64
- MetaSVM -0.24
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.205
- Literature evidence available