Y84* (p.Tyr84Ter) variant of UNC13D (Protein unc-13 homolog D)
Y84* (p.Tyr84Ter) in UNC13D (Protein unc-13 homolog D) 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 0.44 / 1. The record also includes population frequency data and structural context.
Y84* (p.Tyr84Ter) variant details
- p.Tyr84Ter
- rs2545988044
- ClinGen CA401116678
- ClinVar RCV003604314
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available