N30Y (p.Asn30Tyr) variant of PLN (Phospholamban)
N30Y (p.Asn30Tyr) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N30Y (p.Asn30Tyr) variant details
- p.Asn30Tyr
- gnomAD 6-118559009-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.49
- MetaLR 0.27
- MetaSVM -0.46
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available