L22Q (p.Leu22Gln) variant of KDM6B (Lysine-specific demethylase 6B)
L22Q (p.Leu22Gln) 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.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- gnomAD rs1454523439
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.25
- MetaLR 0.16
- MetaSVM -0.76
- CADD 27.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available