Q22L (p.Gln22Leu) variant of PLN (Phospholamban)
Q22L (p.Gln22Leu) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q22L (p.Gln22Leu) variant details
- p.Gln22Leu
- rs794729138
- gnomAD 6-118558982-C-CCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 28.80
- Population evidence available
- Structural context available
- Literature evidence available