A11E (p.Ala11Glu) variant of LAMA3 (Laminin subunit alpha-3)
A11E (p.Ala11Glu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD 18-23689715-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.04
- CADD 16.20
- PolyPhen-2 0.47
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available