S66N (p.Ser66Asn) variant of KDM6B (Lysine-specific demethylase 6B)
S66N (p.Ser66Asn) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- ExAC rs773477615
- TOPMed rs773477615
- gnomAD rs773477615
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.04
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available