A28S (p.Ala28Ser) variant of SOX2 (Transcription factor SOX-2)
A28S (p.Ala28Ser) 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, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 3-181712442-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.30
- MetaLR 0.58
- MetaSVM -0.08
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.67
- 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