C4C (p.Cys4Cys) variant of KDM6A (Lysine-specific demethylase 6A)
C4C (p.Cys4Cys) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C4C (p.Cys4Cys) variant details
- p.Cys4Cys
- rs1291254847
- gnomAD X-44873563-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 14.90
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available