T17I (p.Thr17Ile) variant of PLN (Phospholamban)
T17I (p.Thr17Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- gnomAD 6-118558971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.39
- MetaLR 0.42
- MetaSVM -0.41
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available