A2G (p.Ala2Gly) variant of LAMA3 (Laminin subunit alpha-3)
A2G (p.Ala2Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 18-23689688-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available