N33I (p.Asn33Ile) variant of SOX2 (Transcription factor SOX-2)
N33I (p.Asn33Ile) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N33I (p.Asn33Ile) variant details
- p.Asn33Ile
- gnomAD 3-181712458-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.47
- MetaLR 0.79
- MetaSVM 0.42
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.477
- Literature evidence available