S1025G (p.Ser1025Gly) variant of KDM6A (Lysine-specific demethylase 6A)
S1025G (p.Ser1025Gly) 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 0.73 / 1. The record also includes published literature and structural context.
S1025G (p.Ser1025Gly) variant details
- p.Ser1025Gly
- rs2045279014
- ClinGen CA412801726
- ClinVar RCV001261236
- Ensembl rs2045279014
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.57
- MetaLR 0.70
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)