G33W (p.Gly33Trp) variant of LAMA3 (Laminin subunit alpha-3)
G33W (p.Gly33Trp) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G33W (p.Gly33Trp) variant details
- p.Gly33Trp
- gnomAD 18-23689780-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.12
- CADD 15.50
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available