E19E (p.Glu19Glu) variant of PLN (Phospholamban)
E19E (p.Glu19Glu) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- gnomAD 6-118558978-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available