R1307W (p.Arg1307Trp) variant of KDM6A (Lysine-specific demethylase 6A)
R1307W (p.Arg1307Trp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 2; Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R1307W (p.Arg1307Trp) variant details
- p.Arg1307Trp
- TOPMed rs1208237716
- gnomAD rs1208237716
- Pathogenic
- Kabuki syndrome 2; Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.97
- MetaLR 0.46
- MetaSVM 0.01
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Kabuki syndrome 2; Kabuki syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available