G19S (p.Gly19Ser) variant of KDM6A (Lysine-specific demethylase 6A)
G19S (p.Gly19Ser) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- TOPMed rs1459076968
- gnomAD rs1459076968
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available