P54H (p.Pro54His) variant of KDM6B (Lysine-specific demethylase 6B)
P54H (p.Pro54His) 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 0.25 / 1. The record also includes population frequency data and structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- rs756544042
- NCI-TCGA Cosmic COSV5468
- cosmic curated COSV54687
- ExAC rs756544042
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available