A49S (p.Ala49Ser) variant of KDM6B (Lysine-specific demethylase 6B)
A49S (p.Ala49Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- Ensembl rs2078522876
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.97
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available