A34R (p.Ala34Arg) variant of LAMA3 (Laminin subunit alpha-3)
A34R (p.Ala34Arg) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A34R (p.Ala34Arg) variant details
- p.Ala34Arg
- gnomAD 18-23689779-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.40
- Population evidence available
- Structural context available
- Literature evidence available