G12E (p.Gly12Glu) variant of ELN (Elastin)
G12E (p.Gly12Glu) in ELN (Elastin) 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 0.44 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- ESP rs367634266
- ExAC rs367634266
- TOPMed rs367634266
- gnomAD rs367634266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available