P7L (p.Pro7Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P7L (p.Pro7Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99642
- Ensembl rs2078514615
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.10
- CADD 23.50
- PolyPhen-2 0.45
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available