G60A (p.Gly60Ala) variant of ELN (Elastin)
G60A (p.Gly60Ala) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- gnomAD 7-74037720-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available