C47C (p.Cys47Cys) variant of KDM6B (Lysine-specific demethylase 6B)
C47C (p.Cys47Cys) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C47C (p.Cys47Cys) variant details
- p.Cys47Cys
- gnomAD 17-7845875-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 9.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available