G65D (p.Gly65Asp) variant of KDM6B (Lysine-specific demethylase 6B)
G65D (p.Gly65Asp) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- TOPMed rs1358599972
- gnomAD rs1358599972
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.06
- CADD 25.50
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available