G57R (p.Gly57Arg) variant of ELN (Elastin)
G57R (p.Gly57Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- TOPMed rs1790303008
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available