A5S (p.Ala5Ser) variant of LAMA3 (Laminin subunit alpha-3)
A5S (p.Ala5Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs1568076555
- gnomAD rs1568076555
- Missense
- Variant Prioritization Score for Impact Estimate 0.0419
- REVEL 0.01
- CADD 2.92
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available