S38Y (p.Ser38Tyr) variant of KDM6A (Lysine-specific demethylase 6A)
S38Y (p.Ser38Tyr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KDM6A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S38Y (p.Ser38Tyr) variant details
- p.Ser38Tyr
- rs2146443655
- ClinGen CA413020312
- ClinVar RCV003404338
- Uncertain significance
- KDM6A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 22.50
- PolyPhen-2 0.75
- SIFT 0.08
- ClinVar: Uncertain significance (KDM6A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available