N31D (p.Asn31Asp) variant of CDK12 (Cyclin-dependent kinase 12)
N31D (p.Asn31Asp) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N31D (p.Asn31Asp) variant details
- p.Asn31Asp
- ExAC rs757500947
- TOPMed rs757500947
- gnomAD rs757500947
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available