G21V (p.Gly21Val) variant of SOX2 (Transcription factor SOX-2)
G21V (p.Gly21Val) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- ExAC rs755517456
- gnomAD rs755517456
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.34
- MetaLR 0.78
- MetaSVM 0.26
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.997