V1228I (p.Val1228Ile) variant of KDM6A (Lysine-specific demethylase 6A)
V1228I (p.Val1228Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
V1228I (p.Val1228Ile) variant details
- p.Val1228Ile
- TOPMed rs1171103101
- gnomAD rs1171103101
- Likely pathogenic
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM 0.15
- CADD 24.70
- PolyPhen-2 0.89
- SIFT 0.04
- ClinVar: Likely pathogenic (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available