A30R (p.Ala30Arg) variant of KDM6A (Lysine-specific demethylase 6A)
A30R (p.Ala30Arg) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A30R (p.Ala30Arg) variant details
- p.Ala30Arg
- rs1413057347
- gnomAD X-44873634-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available