R20L (p.Arg20Leu) variant of LAMC2 (Laminin subunit gamma-2)
R20L (p.Arg20Leu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 1-183186411-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.08
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available