A58G (p.Ala58Gly) variant of KDM6B (Lysine-specific demethylase 6B)
A58G (p.Ala58Gly) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A58G (p.Ala58Gly) variant details
- p.Ala58Gly
- 1000Genomes rs200483669
- ExAC rs200483669
- TOPMed rs200483669
- gnomAD rs200483669
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -0.80
- CADD 24.10
- PolyPhen-2 0.33
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available