A5E (p.Ala5Glu) variant of LAMA3 (Laminin subunit alpha-3)
A5E (p.Ala5Glu) in LAMA3 (Laminin subunit alpha-3) 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 0.08 / 1. The record also includes population frequency data and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- TOPMed rs2060541050
- gnomAD rs2060541050
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0838
- REVEL 0.01
- CADD 5.94
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available