S18T (p.Ser18Thr) variant of SOX2 (Transcription factor SOX-2)
S18T (p.Ser18Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- ExAC rs764859792
- TOPMed rs764859792
- gnomAD rs764859792
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.24
- MetaLR 0.66
- MetaSVM -0.25
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004