L21F (p.Leu21Phe) variant of ELN (Elastin)
L21F (p.Leu21Phe) 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 0.31 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs782483220
- ClinGen CA4292226
- ClinVar RCV002953222
- ExAC rs782483220
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available