R81* (p.Arg81Ter) variant of LAMB3 (Laminin subunit beta-3)
R81* (p.Arg81Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R81* (p.Arg81Ter) variant details
- p.Arg81Ter
- rs1064793896
- ClinGen CA16617045
- cosmic curated COSV10442
- ClinVar RCV000485788
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)