G35A (p.Gly35Ala) variant of ELN (Elastin)
G35A (p.Gly35Ala) 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 0.56 / 1. The record also includes population frequency data and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- ExAC rs782038454
- TOPMed rs782038454
- gnomAD rs782038454
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.42
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available