A25S (p.Ala25Ser) variant of KDM6B (Lysine-specific demethylase 6B)
A25S (p.Ala25Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 17-7845627-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.04
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available