H49N (p.His49Asn) variant of CDK12 (Cyclin-dependent kinase 12)
H49N (p.His49Asn) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H49N (p.His49Asn) variant details
- p.His49Asn
- gnomAD 17-39462216-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available