p.Ala30dup variant of SOX2 (Transcription factor SOX-2)
p.Ala30dup in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Ala30dup variant details
- gnomAD 3-181712438-C-CGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.508
- Literature evidence available