S63L (p.Ser63Leu) variant of KDM6B (Lysine-specific demethylase 6B)
S63L (p.Ser63Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
S63L (p.Ser63Leu) variant details
- p.Ser63Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available