R1246C (p.Arg1246Cys) variant of KDM6B (Lysine-specific demethylase 6B)
R1246C (p.Arg1246Cys) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R1246C (p.Arg1246Cys) variant details
- p.Arg1246Cys
- rs1294523865
- ClinGen CA397925315
- cosmic curated COSV54682
- ClinVar RCV002086758
- Likely pathogenic
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.55
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with coarse facies and mild distal s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available