A303D (p.Ala303Asp) variant of KDM6A (Lysine-specific demethylase 6A)
A303D (p.Ala303Asp) 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 0.77 / 1. The record also includes published literature and structural context.
A303D (p.Ala303Asp) variant details
- p.Ala303Asp
- rs2044199885
- ClinGen CA412781211
- ClinVar RCV001254086
- Ensembl rs2044199885
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.75
- MetaLR 0.70
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)