F35I (p.Phe35Ile) variant of PLN (Phospholamban)
F35I (p.Phe35Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F35I (p.Phe35Ile) variant details
- p.Phe35Ile
- gnomAD 6-118559024-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.87
- MetaLR 0.79
- MetaSVM 0.75
- CADD 25.40
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available