K3214N (p.Lys3214Asn) variant of LAMA3 (Laminin subunit alpha-3)
K3214N (p.Lys3214Asn) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Junctional epidermolysis bullosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K3214N (p.Lys3214Asn) variant details
- p.Lys3214Asn
- rs779131897
- ClinGen CA8917248
- NCI-TCGA Cosmic COSV5253
- cosmic curated COSV52534
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.52
- CADD 33.00
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)