L51Q (p.Leu51Gln) variant of PLN (Phospholamban)
L51Q (p.Leu51Gln) 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.
L51Q (p.Leu51Gln) variant details
- p.Leu51Gln
- gnomAD 6-118559072-CTTCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available