A2E (p.Ala2Glu) variant of LAMA3 (Laminin subunit alpha-3)
A2E (p.Ala2Glu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 18-23689688-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.02
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available