S30S (p.Ser30Ser) variant of KDM6B (Lysine-specific demethylase 6B)
S30S (p.Ser30Ser) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs2078516475
- gnomAD 17-7845644-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available