Q1212R (p.Gln1212Arg) variant of KDM6A (Lysine-specific demethylase 6A)
Q1212R (p.Gln1212Arg) 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 not provided; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q1212R (p.Gln1212Arg) variant details
- p.Gln1212Arg
- rs797045644
- ClinGen CA206562
- cosmic curated COSV10748
- ClinVar RCV000193227
- Likely pathogenic
- not provided; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.96
- MetaLR 0.54
- MetaSVM 0.32
- PolyPhen-2 0.53
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (not provided; Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)