L70F (p.Leu70Phe) variant of ELN (Elastin)
L70F (p.Leu70Phe) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- rs1164562093
- ClinGen CA367869090
- NCI-TCGA Cosmic COSV5270
- cosmic curated COSV52707
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available