K23* (p.Lys23Ter) variant of SPINK5 (Q9NQ38)
K23* (p.Lys23Ter) 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 0.63 / 1. The record also includes population frequency data and structural context.
K23* (p.Lys23Ter) variant details
- p.Lys23Ter
- rs1482249008
- ClinGen CA361887468
- ClinVar RCV003763924
- gnomAD rs1482249008
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available