W94* (p.Trp94Ter) variant of LAMB3 (Laminin subunit beta-3)
W94* (p.Trp94Ter) in LAMB3 (Laminin subunit beta-3) 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 0.84 / 1. The record also includes population frequency data and structural context.
W94* (p.Trp94Ter) variant details
- p.Trp94Ter
- rs748099677
- ClinGen CA1376049
- ClinVar RCV001916520
- ExAC rs748099677
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available