A19S (p.Ala19Ser) variant of LAMC2 (Laminin subunit gamma-2)
A19S (p.Ala19Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- ESP rs367773500
- ExAC rs367773500
- TOPMed rs367773500
- gnomAD rs367773500
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.03
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available