p.Ala34 Gly67del variant of LAMA3 (Laminin subunit alpha-3)
p.Ala34 Gly67del in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala34 Gly67del variant details
- gnomAD 18-23689774-GCCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available