C32G (p.Cys32Gly) variant of LAMA3 (Laminin subunit alpha-3)
C32G (p.Cys32Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
C32G (p.Cys32Gly) variant details
- p.Cys32Gly
- TOPMed rs2060543586
- Missense
- Variant Prioritization Score for Impact Estimate 0.0637
- REVEL 0.02
- CADD 8.38
- PolyPhen-2 0.02
- SIFT 0.40
- Population evidence available
- Structural context available