G33V (p.Gly33Val) variant of LAMA3 (Laminin subunit alpha-3)
G33V (p.Gly33Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- gnomAD 18-23689781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- CADD 13.80
- PolyPhen-2 0.34
- SIFT 0.27
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available