I48I (p.Ile48Ile) variant of PLN (Phospholamban)
I48I (p.Ile48Ile) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs141114252
- gnomAD 6-118559065-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.73
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available