I45L (p.Ile45Leu) variant of PLN (Phospholamban)
I45L (p.Ile45Leu) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I45L (p.Ile45Leu) variant details
- p.Ile45Leu
- gnomAD 6-118559054-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.69
- MetaLR 0.61
- MetaSVM 0.35
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available