V4I (p.Val4Ile) variant of PLN (Phospholamban)
V4I (p.Val4Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- gnomAD 6-118558931-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.61
- MetaLR 0.85
- MetaSVM 0.83
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available