A16A (p.Ala16Ala) variant of KDM6B (Lysine-specific demethylase 6B)
A16A (p.Ala16Ala) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs2078515451
- gnomAD 17-7845602-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 13.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available