G13D (p.Gly13Asp) variant of LAMB3 (Laminin subunit beta-3)
G13D (p.Gly13Asp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs746335563
- ClinGen CA344566391
- NCI-TCGA Cosmic COSV6192
- cosmic curated COSV61920
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.13
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)