A3286S (p.Ala3286Ser) variant of LAMA3 (Laminin subunit alpha-3)
A3286S (p.Ala3286Ser) in LAMA3 (Laminin subunit alpha-3) 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 0.41 / 1. The record also includes published literature and structural context.
A3286S (p.Ala3286Ser) variant details
- p.Ala3286Ser
- rs2082978607
- ClinGen CA402053871
- ClinVar RCV001352735
- Ensembl rs2082978607
- Pathogenic
- Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.35
- SIFT 0.11
- MutPred 0.34
- ClinVar: Pathogenic (Junctional epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)