N33H (p.Asn33His) variant of SOX2 (Transcription factor SOX-2)
N33H (p.Asn33His) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N33H (p.Asn33His) variant details
- p.Asn33His
- TOPMed rs1360786606
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.45
- MetaLR 0.79
- MetaSVM 0.45
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.477