V1176I (p.Val1176Ile) variant of KDM6A (Lysine-specific demethylase 6A)
V1176I (p.Val1176Ile) 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 0.47 / 1. The record also includes published literature and structural context.
V1176I (p.Val1176Ile) variant details
- p.Val1176Ile
- rs2148169594
- ClinGen CA412805234
- ClinVar RCV002256958
- Ensembl rs2148169594
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM 0.15
- PolyPhen-2 0.89
- SIFT 0.04
- EVE 0.23
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)