D29E (p.Asp29Glu) variant of LAMC2 (Laminin subunit gamma-2)
D29E (p.Asp29Glu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD 1-183207888-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.32
- CADD 12.80
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available