A28T (p.Ala28Thr) variant of SOX2 (Transcription factor SOX-2)
A28T (p.Ala28Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD 3-181712442-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- MetaLR 0.70
- MetaSVM 0.12
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.20
- 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 0.123
- Literature evidence available