D111G (p.Asp111Gly) variant of LAMB3 (Laminin subunit beta-3)
D111G (p.Asp111Gly) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D111G (p.Asp111Gly) variant details
- p.Asp111Gly
- rs55824996
- ClinGen CA1376027
- ClinVar RCV000247413
- ClinVar RCV000955854
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.47
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)