A18S (p.Ala18Ser) variant of LAMC2 (Laminin subunit gamma-2)
A18S (p.Ala18Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- Ensembl rs1558075242
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.17
- SIFT 0.52
- Population evidence available
- Structural context available