G13V (p.Gly13Val) variant of LAMB3 (Laminin subunit beta-3)
G13V (p.Gly13Val) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- ExAC rs746335563
- TOPMed rs746335563
- gnomAD rs746335563
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available