Y2H (p.Tyr2His) variant of SOX2 (Transcription factor SOX-2)
Y2H (p.Tyr2His) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y2H (p.Tyr2His) variant details
- p.Tyr2His
- gnomAD 3-181712364-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.392
- Literature evidence available