S7S (p.Ser7Ser) variant of KDM6A (Lysine-specific demethylase 6A)
S7S (p.Ser7Ser) in KDM6A (Lysine-specific demethylase 6A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs2146440794
- gnomAD X-44873572-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available