P17L (p.Pro17Leu) variant of LAMC2 (Laminin subunit gamma-2)
P17L (p.Pro17Leu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD 1-183186402-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- CADD 18.10
- PolyPhen-2 0.08
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available