K110* (p.Lys110Ter) variant of CYP17A1 (P05093)
K110* (p.Lys110Ter) in CYP17A1 (P05093) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K110* (p.Lys110Ter) variant details
- p.Lys110Ter
- rs2493243250
- ClinGen CA2580616864
- ClinVar RCV003318180
- ClinVar RCV004572922
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available