F17C (p.Phe17Cys) variant of KDM6B (Lysine-specific demethylase 6B)
F17C (p.Phe17Cys) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- gnomAD 17-7845604-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.30
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available