H49L (p.His49Leu) variant of CDK12 (Cyclin-dependent kinase 12)
H49L (p.His49Leu) 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 0.53 / 1. The record also includes population frequency data and structural context.
H49L (p.His49Leu) variant details
- p.His49Leu
- ExAC rs775003325
- TOPMed rs775003325
- gnomAD rs775003325
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.45
- CADD 26.70
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available