L19F (p.Leu19Phe) variant of KDM6B (Lysine-specific demethylase 6B)
L19F (p.Leu19Phe) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs775940947
- ClinGen CA8360035
- ClinVar RCV003405931
- ClinVar RCV005932773
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -0.93
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available