Y2Y (p.Tyr2Tyr) variant of SOX2 (Transcription factor SOX-2)
Y2Y (p.Tyr2Tyr) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y2Y (p.Tyr2Tyr) variant details
- p.Tyr2Tyr
- rs1204543187
- gnomAD 3-181712366-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 12.40
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.392
- Literature evidence available