G13R (p.Gly13Arg) variant of SOX2 (Transcription factor SOX-2)
G13R (p.Gly13Arg) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- Ensembl rs1714835180
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.33
- MetaLR 0.80
- MetaSVM 0.74
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.147