C4S (p.Cys4Ser) variant of KDM6A (Lysine-specific demethylase 6A)
C4S (p.Cys4Ser) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C4S (p.Cys4Ser) variant details
- p.Cys4Ser
- gnomAD X-44873561-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available