A3E (p.Ala3Glu) variant of LAMC2 (Laminin subunit gamma-2)
A3E (p.Ala3Glu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 1-183186360-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.74
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available