L14I (p.Leu14Ile) variant of LAMC2 (Laminin subunit gamma-2)
L14I (p.Leu14Ile) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 1-183186392-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- CADD 11.20
- PolyPhen-2 0.28
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available