R38P (p.Arg38Pro) variant of KDM6B (Lysine-specific demethylase 6B)
R38P (p.Arg38Pro) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- 1000Genomes rs531880923
- ExAC rs531880923
- TOPMed rs531880923
- gnomAD rs531880923
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -0.99
- CADD 25.00
- PolyPhen-2 0.58
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available