A19T (p.Ala19Thr) variant of LAMC2 (Laminin subunit gamma-2)
A19T (p.Ala19Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 1-183186407-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available