E42K (p.Glu42Lys) variant of LAMC2 (Laminin subunit gamma-2)
E42K (p.Glu42Lys) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs1406578480
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99917
- gnomAD rs1406578480
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available