N30* (p.Asn30Ter) variant of PLN (Phospholamban)
N30* (p.Asn30Ter) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N30* (p.Asn30Ter) variant details
- p.Asn30Ter
- gnomAD 6-118559008-G-GT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available