V535M (p.Val535Met) variant of KDM6B (Lysine-specific demethylase 6B)
V535M (p.Val535Met) 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 0.25 / 1. The record also includes population frequency data and structural context.
V535M (p.Val535Met) variant details
- p.Val535Met
- rs1419688179
- ClinGen CA397917036
- ClinVar RCV003128104
- NCI-TCGA Cosmic COSV5468
- Likely pathogenic
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.05
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with coarse facies and mild distal s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available