L4P (p.Leu4Pro) variant of LAMC2 (Laminin subunit gamma-2)
L4P (p.Leu4Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 1-183186363-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available