R38C (p.Arg38Cys) variant of KDM6B (Lysine-specific demethylase 6B)
R38C (p.Arg38Cys) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- NCI-TCGA Cosmic COSV5468
- cosmic curated COSV54680
- Ensembl rs2078517218
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -0.91
- CADD 27.90
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available