Q19K (p.Gln19Lys) variant of LAMB3 (Laminin subunit beta-3)
Q19K (p.Gln19Lys) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- rs200672750
- ClinGen CA1376113
- ClinVar RCV002729722
- ClinVar RCV005099096
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.06
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)