S7L (p.Ser7Leu) variant of CDK9 (Cyclin-dependent kinase 9)
S7L (p.Ser7Leu) in CDK9 (Cyclin-dependent kinase 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- ExAC rs746864836
- gnomAD rs746864836
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.02
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00043)
- Structural context available