S19F (p.Ser19Phe) variant of ELN (Elastin)
S19F (p.Ser19Phe) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs375012670
- gnomAD 7-74040009-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 4.54
- Population evidence available
- Structural context available
- Literature evidence available