H47N (p.His47Asn) variant of CDK7 (Cyclin-dependent kinase 7)
H47N (p.His47Asn) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H47N (p.His47Asn) variant details
- p.His47Asn
- gnomAD 5-69252430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available