L14F (p.Leu14Phe) variant of LAMC2 (Laminin subunit gamma-2)
L14F (p.Leu14Phe) 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 and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD rs1351893329
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.06
- CADD 9.70
- PolyPhen-2 0.03
- SIFT 0.73
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available