G20S (p.Gly20Ser) variant of SOX2 (Transcription factor SOX-2)
G20S (p.Gly20Ser) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- gnomAD 3-181712418-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.51
- MetaLR 0.88
- MetaSVM 0.73
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.44
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.155
- Literature evidence available