H42Y (p.His42Tyr) variant of CDK12 (Cyclin-dependent kinase 12)
H42Y (p.His42Tyr) 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 0.51 / 1. The record also includes population frequency data and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- Ensembl rs1181949082
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.31
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available