L6P (p.Leu6Pro) variant of LAMC2 (Laminin subunit gamma-2)
L6P (p.Leu6Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 1-183186369-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available