P37S (p.Pro37Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P37S (p.Pro37Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- 1000Genomes rs561573131
- ExAC rs561573131
- gnomAD rs561573131
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.02
- CADD 21.10
- PolyPhen-2 0.10
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available