P32T (p.Pro32Thr) variant of KDM6B (Lysine-specific demethylase 6B)
P32T (p.Pro32Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- gnomAD 17-7845648-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available