V28L (p.Val28Leu) variant of LAMA3 (Laminin subunit alpha-3)
V28L (p.Val28Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD 18-23689765-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0359
- REVEL 0.00
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available