K35N (p.Lys35Asn) variant of SOX2 (Transcription factor SOX-2)
K35N (p.Lys35Asn) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K35N (p.Lys35Asn) variant details
- p.Lys35Asn
- ExAC rs769570510
- gnomAD rs769570510
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.33
- MetaLR 0.67
- MetaSVM -0.15
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score 0.133