S30P (p.Ser30Pro) variant of KDM6B (Lysine-specific demethylase 6B)
S30P (p.Ser30Pro) 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 0.26 / 1. The record also includes population frequency data and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -1.02
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available