A3V (p.Ala3Val) variant of LAMC2 (Laminin subunit gamma-2)
A3V (p.Ala3Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs1252714386
- gnomAD rs1252714386
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available