Q16L (p.Gln16Leu) variant of SOX2 (Transcription factor SOX-2)
Q16L (p.Gln16Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q16L (p.Gln16Leu) variant details
- p.Gln16Leu
- gnomAD 3-181712407-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.30
- MetaLR 0.82
- MetaSVM -0.14
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.217
- Literature evidence available