G31S (p.Gly31Ser) variant of SOX2 (Transcription factor SOX-2)
G31S (p.Gly31Ser) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- TOPMed rs1386163785
- gnomAD rs1386163785
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.43
- MetaLR 0.75
- MetaSVM 0.54
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0803