L16P (p.Leu16Pro) variant of LAMC2 (Laminin subunit gamma-2)
L16P (p.Leu16Pro) 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.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 1-183186399-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available