L28I (p.Leu28Ile) variant of PLN (Phospholamban)
L28I (p.Leu28Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD 6-118559003-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.29
- MetaLR 0.48
- MetaSVM -0.34
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available