A4V (p.Ala4Val) variant of LAMA3 (Laminin subunit alpha-3)
A4V (p.Ala4Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- TOPMed rs1372314794
- gnomAD rs1372314794
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available