A27S (p.Ala27Ser) variant of KDM6B (Lysine-specific demethylase 6B)
A27S (p.Ala27Ser) 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, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 17-7845633-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.04
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available