Q73P (p.Gln73Pro) variant of LAMB3 (Laminin subunit beta-3)
Q73P (p.Gln73Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Q73P (p.Gln73Pro) variant details
- p.Gln73Pro
- rs1270543623
- ClinGen CA344597851
- ClinVar RCV002778168
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.97
- PolyPhen-2 0.45
- SIFT 0.54
- MutPred 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)