A43S (p.Ala43Ser) variant of KDM6A (Lysine-specific demethylase 6A)
A43S (p.Ala43Ser) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD X-44873678-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available