N35H (p.Asn35His) variant of CDK7 (Cyclin-dependent kinase 7)
N35H (p.Asn35His) in CDK7 (Cyclin-dependent kinase 7) 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 0.26 / 1. The record also includes population frequency data and structural context.
N35H (p.Asn35His) variant details
- p.Asn35His
- 1000Genomes rs551300728
- ExAC rs551300728
- TOPMed rs551300728
- gnomAD rs551300728
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- CADD 25.30
- PolyPhen-2 0.79
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available