S68C (p.Ser68Cys) variant of KDM6B (Lysine-specific demethylase 6B)
S68C (p.Ser68Cys) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S68C (p.Ser68Cys) variant details
- p.Ser68Cys
- gnomAD 17-7845937-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.08
- CADD 24.70
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available