P62L (p.Pro62Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P62L (p.Pro62Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- ExAC rs768670113
- gnomAD rs768670113
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -0.98
- CADD 25.10
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available