S30A (p.Ser30Ala) variant of KDM6B (Lysine-specific demethylase 6B)
S30A (p.Ser30Ala) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD 17-7845642-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.16
- CADD 23.90
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available