G44R (p.Gly44Arg) variant of KDM6B (Lysine-specific demethylase 6B)
G44R (p.Gly44Arg) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- gnomAD 17-7845684-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- CADD 24.20
- PolyPhen-2 0.29
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available