S7L (p.Ser7Leu) variant of KDM6A (Lysine-specific demethylase 6A)
S7L (p.Ser7Leu) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- cosmic curated COSV65040
- ExAC rs770931883
- TOPMed rs770931883
- gnomAD rs770931883
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available