G21C (p.Gly21Cys) variant of SOX2 (Transcription factor SOX-2)
G21C (p.Gly21Cys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- gnomAD 3-181712421-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.42
- MetaLR 0.77
- MetaSVM 0.51
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.997
- Literature evidence available