A16G (p.Ala16Gly) variant of KDM6A (Lysine-specific demethylase 6A)
A16G (p.Ala16Gly) 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 KDM6A-related disorder; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- rs1007509134
- ClinGen CA329555540
- ClinVar RCV003397631
- ClinVar RCV005062880
- Uncertain significance
- KDM6A-related disorder; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 19.80
- PolyPhen-2 0.33
- SIFT 0.67
- ClinVar: Uncertain significance (KDM6A-related disorder; Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)