A43A (p.Ala43Ala) variant of KDM6A (Lysine-specific demethylase 6A)
A43A (p.Ala43Ala) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A43A (p.Ala43Ala) variant details
- p.Ala43Ala
- gnomAD X-44873680-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available