A27T (p.Ala27Thr) variant of SOX2 (Transcription factor SOX-2)
A27T (p.Ala27Thr) 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, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- Ensembl rs2108521474
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.31
- MetaLR 0.63
- MetaSVM -0.12
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.163