A12G (p.Ala12Gly) variant of KDM6B (Lysine-specific demethylase 6B)
A12G (p.Ala12Gly) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD rs1269560563
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available