K27S (p.Lys27Ser) variant of PLN (Phospholamban)
K27S (p.Lys27Ser) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K27S (p.Lys27Ser) variant details
- p.Lys27Ser
- gnomAD 6-118558997-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 27.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available