G47V (p.Gly47Val) variant of ELN (Elastin)
G47V (p.Gly47Val) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- gnomAD 7-74036558-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 28.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available