S37G (p.Ser37Gly) variant of SOX2 (Transcription factor SOX-2)
S37G (p.Ser37Gly) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- ExAC rs762549192
- gnomAD rs762549192
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- MetaLR 0.67
- MetaSVM 0.12
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.489