Q16P (p.Gln16Pro) variant of SOX2 (Transcription factor SOX-2)
Q16P (p.Gln16Pro) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q16P (p.Gln16Pro) variant details
- p.Gln16Pro
- gnomAD 3-181712407-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- MetaLR 0.74
- MetaSVM -0.30
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.217
- Literature evidence available