C32F (p.Cys32Phe) variant of LAMA3 (Laminin subunit alpha-3)
C32F (p.Cys32Phe) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
C32F (p.Cys32Phe) variant details
- p.Cys32Phe
- gnomAD 18-23689778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0668
- REVEL 0.04
- CADD 4.84
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available