G9C (p.Gly9Cys) variant of LAMA3 (Laminin subunit alpha-3)
G9C (p.Gly9Cys) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 18-23689708-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available