S18S (p.Ser18Ser) variant of SOX2 (Transcription factor SOX-2)
S18S (p.Ser18Ser) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs757913217
- gnomAD 3-181712414-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 0.00022)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004
- Literature evidence available