G1085R (p.Gly1085Arg) variant of KDM6A (Lysine-specific demethylase 6A)
G1085R (p.Gly1085Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G1085R (p.Gly1085Arg) variant details
- p.Gly1085Arg
- rs2045472713
- ClinGen CA412803276
- cosmic curated COSV65038
- ClinVar RCV001258336
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.99
- MetaLR 0.53
- MetaSVM 0.14
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)