P9L (p.Pro9Leu) variant of ELN (Elastin)
P9L (p.Pro9Leu) 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; not provided. 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.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs782292334
- ClinGen CA4292214
- ClinVar RCV003490744
- ClinVar RCV003631329
- Uncertain significance
- Supravalvar aortic stenosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.17
- CADD 0.88
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available