E26K (p.Glu26Lys) variant of LAMC2 (Laminin subunit gamma-2)
E26K (p.Glu26Lys) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD 1-183186428-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.12
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available