P59T (p.Pro59Thr) variant of KDM6B (Lysine-specific demethylase 6B)
P59T (p.Pro59Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P59T (p.Pro59Thr) variant details
- p.Pro59Thr
- gnomAD 17-7845909-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available