G31R (p.Gly31Arg) variant of SOX2 (Transcription factor SOX-2)
G31R (p.Gly31Arg) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- TOPMed rs1386163785
- gnomAD rs1386163785
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.56
- MetaLR 0.79
- MetaSVM 0.69
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0803