S1398Y (p.Ser1398Tyr) variant of KDM6B (Lysine-specific demethylase 6B)
S1398Y (p.Ser1398Tyr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
S1398Y (p.Ser1398Tyr) variant details
- p.Ser1398Tyr
- rs1453375461
- ClinGen CA397927195
- ClinVar RCV003150513
- Likely pathogenic
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with coarse facies and mild distal s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available