G69E (p.Gly69Glu) variant of ELN (Elastin)
G69E (p.Gly69Glu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- gnomAD rs1554668253
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.30
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available