N35Y (p.Asn35Tyr) variant of CDK7 (Cyclin-dependent kinase 7)
N35Y (p.Asn35Tyr) in CDK7 (Cyclin-dependent kinase 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N35Y (p.Asn35Tyr) variant details
- p.Asn35Tyr
- 1000Genomes rs551300728
- ExAC rs551300728
- TOPMed rs551300728
- gnomAD rs551300728
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available