G59A (p.Gly59Ala) variant of ELN (Elastin)
G59A (p.Gly59Ala) 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 0.46 / 1. The record also includes population frequency data and structural context.
G59A (p.Gly59Ala) variant details
- p.Gly59Ala
- ExAC rs782141308
- TOPMed rs782141308
- gnomAD rs782141308
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- AlphaMissense 0.22
- MetaLR 0.63
- MetaSVM 0.24
- CADD 24.70
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available