S19N (p.Ser19Asn) variant of ELN (Elastin)
S19N (p.Ser19Asn) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- rs781790610
- gnomAD 7-74037735-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 8.30
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available