P1195L (p.Pro1195Leu) variant of KDM6A (Lysine-specific demethylase 6A)
P1195L (p.Pro1195Leu) 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 0.66 / 1. The record also includes published literature and structural context.
P1195L (p.Pro1195Leu) variant details
- p.Pro1195Leu
- rs1602985802
- ClinGen CA412806633
- ClinVar RCV000803634
- Ensembl rs1602985802
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.54
- PolyPhen-2 0.07
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)