N36K (p.Asn36Lys) variant of SOX2 (Transcription factor SOX-2)
N36K (p.Asn36Lys) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- 1000Genomes rs548425389
- ExAC rs548425389
- gnomAD rs548425389
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.43
- MetaLR 0.69
- MetaSVM 0.25
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.279