A4A (p.Ala4Ala) variant of KDM6B (Lysine-specific demethylase 6B)
A4A (p.Ala4Ala) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 17-7845566-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available