P9Q (p.Pro9Gln) variant of ELN (Elastin)
P9Q (p.Pro9Gln) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- ExAC rs782292334
- TOPMed rs782292334
- gnomAD rs782292334
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.16
- CADD 5.05
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available