E6Q (p.Glu6Gln) variant of SOX2 (Transcription factor SOX-2)
E6Q (p.Glu6Gln) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- gnomAD rs1273721978
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.70
- MetaLR 0.93
- MetaSVM 1.04
- CADD 27.10
- PolyPhen-2 0.70
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841