A17V (p.Ala17Val) variant of LAMB3 (Laminin subunit beta-3)
A17V (p.Ala17Val) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- TOPMed rs1464376564
- gnomAD rs1464376564
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.43
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available