N31K (p.Asn31Lys) variant of CDK12 (Cyclin-dependent kinase 12)
N31K (p.Asn31Lys) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- ExAC rs781546834
- TOPMed rs781546834
- gnomAD rs781546834
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available