L52S (p.Leu52Ser) variant of PLN (Phospholamban)
L52S (p.Leu52Ser) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- gnomAD 6-118559072-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 32.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available