I47Y (p.Ile47Tyr) variant of PLN (Phospholamban)
I47Y (p.Ile47Tyr) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I47Y (p.Ile47Tyr) variant details
- p.Ile47Tyr
- gnomAD 6-118559058-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available