N24K (p.Asn24Lys) variant of SOX2 (Transcription factor SOX-2)
N24K (p.Asn24Lys) 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.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- gnomAD 3-181712432-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.31
- MetaLR 0.73
- MetaSVM -0.05
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.386
- Literature evidence available