G24E (p.Gly24Glu) variant of LAMB3 (Laminin subunit beta-3)
G24E (p.Gly24Glu) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- gnomAD rs1300931830
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.53
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available