L22V (p.Leu22Val) variant of KDM6B (Lysine-specific demethylase 6B)
L22V (p.Leu22Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD rs1347146144
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -1.03
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available