Y27C (p.Tyr27Cys) variant of CDK7 (Cyclin-dependent kinase 7)
Y27C (p.Tyr27Cys) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y27C (p.Tyr27Cys) variant details
- p.Tyr27Cys
- rs1383409705
- gnomAD rs1383409705
- ClinGen CA359913959
- ClinVar RCV004260108
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available