P18L (p.Pro18Leu) variant of LAMA3 (Laminin subunit alpha-3)
P18L (p.Pro18Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- gnomAD 18-23689736-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0856
- REVEL 0.03
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available