S7A (p.Ser7Ala) variant of CDK7 (Cyclin-dependent kinase 7)
S7A (p.Ser7Ala) in CDK7 (Cyclin-dependent kinase 7) 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, published literature, and structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- gnomAD 5-69234994-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available