G21A (p.Gly21Ala) variant of SOX2 (Transcription factor SOX-2)
G21A (p.Gly21Ala) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- ExAC rs755517456
- gnomAD rs755517456
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.29
- MetaLR 0.77
- MetaSVM 0.22
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.997