L42L (p.Leu42Leu) variant of PLN (Phospholamban)
L42L (p.Leu42Leu) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- gnomAD 6-118559047-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 5.61
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available