G33E (p.Gly33Glu) variant of LAMA3 (Laminin subunit alpha-3)
G33E (p.Gly33Glu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- gnomAD 18-23689781-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.10
- CADD 14.00
- PolyPhen-2 0.34
- SIFT 0.29
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available