A16S (p.Ala16Ser) variant of KDM6B (Lysine-specific demethylase 6B)
A16S (p.Ala16Ser) 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, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 17-7845600-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available