R8L (p.Arg8Leu) variant of LAMA3 (Laminin subunit alpha-3)
R8L (p.Arg8Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 18-23689706-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0501
- REVEL 0.01
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available