A48A (p.Ala48Ala) variant of KDM6A (Lysine-specific demethylase 6A)
A48A (p.Ala48Ala) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- gnomAD X-44873695-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available