S1741G (p.Ser1741Gly) variant of LAMA3 (Laminin subunit alpha-3)
S1741G (p.Ser1741Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Junctional epidermolysis bullosa gravis of Herlitz. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S1741G (p.Ser1741Gly) variant details
- p.Ser1741Gly
- rs1555724108
- ClinGen CA402045398
- ClinVar RCV000664875
- Ensembl rs1555724108
- Likely pathogenic
- Junctional epidermolysis bullosa gravis of Herlitz
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.11
- MetaLR 0.38
- MetaSVM -0.27
- SIFT 0.05
- MutPred 0.58
- ClinVar: Likely pathogenic (Junctional epidermolysis bullosa gravis of Herlitz)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)