S3Y (p.Ser3Tyr) variant of KDM6A (Lysine-specific demethylase 6A)
S3Y (p.Ser3Tyr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD X-44873559-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available