A43D (p.Ala43Asp) variant of KDM6A (Lysine-specific demethylase 6A)
A43D (p.Ala43Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- gnomAD X-44873679-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 23.60
- PolyPhen-2 0.58
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available