S37S (p.Ser37Ser) variant of SOX2 (Transcription factor SOX-2)
S37S (p.Ser37Ser) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S37S (p.Ser37Ser) variant details
- p.Ser37Ser
- rs2108521555
- gnomAD 3-181712471-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 13.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.489
- Literature evidence available