S40A (p.Ser40Ala) variant of KDM6A (Lysine-specific demethylase 6A)
S40A (p.Ser40Ala) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- gnomAD X-44873663-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available