A25G (p.Ala25Gly) variant of KDM6B (Lysine-specific demethylase 6B)
A25G (p.Ala25Gly) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- gnomAD 17-7845628-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available