K35Q (p.Lys35Gln) variant of SOX2 (Transcription factor SOX-2)
K35Q (p.Lys35Gln) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K35Q (p.Lys35Gln) variant details
- p.Lys35Gln
- gnomAD 3-181712463-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.45
- MetaLR 0.74
- MetaSVM 0.35
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score 0.133
- Literature evidence available