L63F (p.Leu63Phe) variant of ELN (Elastin)
L63F (p.Leu63Phe) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- cosmic curated COSV10509
- Ensembl rs1584503047
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.09
- CADD 18.60
- PolyPhen-2 0.37
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available