C15* (p.Cys15Ter) variant of SPINK5 (Q9NQ38)
C15* (p.Cys15Ter) in SPINK5 (Q9NQ38) 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 0.49 / 1. The record also includes population frequency data and structural context.
C15* (p.Cys15Ter) variant details
- p.Cys15Ter
- rs770450773
- ClinGen CA3495075
- ClinVar RCV003596124
- ExAC rs770450773
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available