S40G (p.Ser40Gly) variant of KDM6A (Lysine-specific demethylase 6A)
S40G (p.Ser40Gly) 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 and structural context.
S40G (p.Ser40Gly) variant details
- p.Ser40Gly
- TOPMed rs2031085490
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available