A11L (p.Ala11Leu) variant of PLN (Phospholamban)
A11L (p.Ala11Leu) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A11L (p.Ala11Leu) variant details
- p.Ala11Leu
- rs1779066083
- gnomAD 6-118558943-A-ACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.80
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available