G54E (p.Gly54Glu) variant of ELN (Elastin)
G54E (p.Gly54Glu) 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.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- TOPMed rs1412123803
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available