C36Y (p.Cys36Tyr) variant of PLN (Phospholamban)
C36Y (p.Cys36Tyr) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C36Y (p.Cys36Tyr) variant details
- p.Cys36Tyr
- gnomAD 6-118559028-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.78
- MetaLR 0.60
- MetaSVM 0.37
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available