T17A (p.Thr17Ala) variant of PLN (Phospholamban)
T17A (p.Thr17Ala) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- gnomAD 6-118558970-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.16
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available