E47K (p.Glu47Lys) variant of KDM6A (Lysine-specific demethylase 6A)
E47K (p.Glu47Lys) 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 Peripheral precocious puberty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs2146444183
- ClinGen CA413020367
- ClinVar RCV001374433
- Ensembl rs2146444183
- Uncertain significance
- Peripheral precocious puberty
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.16
- MetaLR 0.32
- MetaSVM -0.39
- PolyPhen-2 0.20
- SIFT 0.07
- MutPred 0.45
- ClinVar: Uncertain significance (Peripheral precocious puberty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available