C24R (p.Cys24Arg) variant of KDM6B (Lysine-specific demethylase 6B)
C24R (p.Cys24Arg) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- gnomAD 17-7845624-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available