G13A (p.Gly13Ala) variant of SOX2 (Transcription factor SOX-2)
G13A (p.Gly13Ala) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 3-181712398-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.35
- MetaLR 0.62
- MetaSVM -0.27
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.61
- 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 -0.147
- Literature evidence available