S37N (p.Ser37Asn) variant of SOX2 (Transcription factor SOX-2)
S37N (p.Ser37Asn) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- Ensembl rs2108521554
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.42
- MetaLR 0.60
- MetaSVM -0.10
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.489