G127W (p.Gly127Trp) variant of LAMC2 (Laminin subunit gamma-2)
G127W (p.Gly127Trp) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Junctional epidermolysis bullosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G127W (p.Gly127Trp) variant details
- p.Gly127Trp
- rs779546941
- ClinGen CA1282312
- ClinVar RCV001352883
- ExAC rs779546941
- Pathogenic
- Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.54
- CADD 25.00
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Pathogenic (Junctional epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)