G40E (p.Gly40Glu) variant of ELN (Elastin)
G40E (p.Gly40Glu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- gnomAD 7-74035400-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.50
- CADD 25.50
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available