V28A (p.Val28Ala) variant of LAMA3 (Laminin subunit alpha-3)
V28A (p.Val28Ala) 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.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- gnomAD 18-23689766-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0526
- REVEL 0.02
- CADD 5.87
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available