A19D (p.Ala19Asp) variant of LAMC2 (Laminin subunit gamma-2)
A19D (p.Ala19Asp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- TOPMed rs919996945
- gnomAD rs919996945
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.15
- CADD 14.70
- PolyPhen-2 0.08
- SIFT 0.45
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available