L14H (p.Leu14His) variant of LAMC2 (Laminin subunit gamma-2)
L14H (p.Leu14His) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L14H (p.Leu14His) variant details
- p.Leu14His
- gnomAD 1-183186393-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.88
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available