G13R (p.Gly13Arg) variant of CDK12 (Cyclin-dependent kinase 12)
G13R (p.Gly13Arg) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- TOPMed rs1261960315
- gnomAD rs1261960315
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.20
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available