C47W (p.Cys47Trp) variant of KDM6B (Lysine-specific demethylase 6B)
C47W (p.Cys47Trp) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C47W (p.Cys47Trp) variant details
- p.Cys47Trp
- gnomAD 17-7845875-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available