P43L (p.Pro43Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P43L (p.Pro43Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- gnomAD rs1375989663
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.09
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available