G3C (p.Gly3Cys) variant of ELN (Elastin)
G3C (p.Gly3Cys) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G3C (p.Gly3Cys) variant details
- p.Gly3Cys
- Ensembl rs1787856509
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- CADD 26.50
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available