L14V (p.Leu14Val) variant of LAMB3 (Laminin subunit beta-3)
L14V (p.Leu14Val) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- TOPMed rs1487033447
- gnomAD rs1487033447
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- REVEL 0.03
- CADD 9.65
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available