A18V (p.Ala18Val) variant of LAMC2 (Laminin subunit gamma-2)
A18V (p.Ala18Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 1-183186405-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.19
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available