N3K (p.Asn3Lys) variant of SOX2 (Transcription factor SOX-2)
N3K (p.Asn3Lys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- TOPMed rs1369435217
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.53
- MetaLR 0.81
- MetaSVM 0.76
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.667