G7S (p.Gly7Ser) variant of LAMC2 (Laminin subunit gamma-2)
G7S (p.Gly7Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs576076077
- ClinGen CA1282165
- ClinVar RCV004410017
- 1000Genomes rs576076077
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0659
- REVEL 0.03
- CADD 4.37
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)