W6* (p.Trp6Ter) variant of LDLR (Low-density lipoprotein receptor)
W6* (p.Trp6Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
W6* (p.Trp6Ter) variant details
- p.Trp6Ter
- rs2515907266
- ClinGen CA404071328
- ClinVar RCV004018066
- NCI-TCGA TCGA novel
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 33.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available