A11G (p.Ala11Gly) variant of LAMA3 (Laminin subunit alpha-3)
A11G (p.Ala11Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 18-23689715-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.01
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available