G19W (p.Gly19Trp) variant of SOX2 (Transcription factor SOX-2)
G19W (p.Gly19Trp) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19W (p.Gly19Trp) variant details
- p.Gly19Trp
- gnomAD 3-181712415-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.61
- MetaLR 0.89
- MetaSVM 0.90
- CADD 29.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.258
- Literature evidence available