N33S (p.Asn33Ser) variant of SOX2 (Transcription factor SOX-2)
N33S (p.Asn33Ser) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- TOPMed rs1714841038
- gnomAD rs1714841038
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.26
- CADD 18.50
- SIFT 0.41
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.477