N33N (p.Asn33Asn) variant of CDK7 (Cyclin-dependent kinase 7)
N33N (p.Asn33Asn) in CDK7 (Cyclin-dependent kinase 7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N33N (p.Asn33Asn) variant details
- p.Asn33Asn
- rs2972388
- gnomAD 5-69235426-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 13.80
- Most common in the HGDP:COLOMBIAN population (allele frequency 1)
- Structural context available
- Cited in: Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA… (PMID 25026993)
- Cited in: The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair polymorphisms in individual susceptibility… (PMID 23982724)