R81Q (p.Arg81Gln) variant of LAMB3 (Laminin subunit beta-3)
R81Q (p.Arg81Gln) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Junctional epidermolysis bullosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R81Q (p.Arg81Gln) variant details
- p.Arg81Gln
- rs978039540
- ClinGen CA36761961
- ClinVar RCV001098928
- ClinVar RCV004032045
- Uncertain significance
- Inborn genetic diseases; Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Junctional epidermolysis bullosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)