A16S (p.Ala16Ser) variant of KDM6A (Lysine-specific demethylase 6A)
A16S (p.Ala16Ser) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- Ensembl rs2031066127
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 19.60
- PolyPhen-2 0.58
- SIFT 0.87
- Population evidence available
- Structural context available