C36R (p.Cys36Arg) variant of PLN (Phospholamban)
C36R (p.Cys36Arg) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C36R (p.Cys36Arg) variant details
- p.Cys36Arg
- gnomAD 6-118559027-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.80
- MetaLR 0.55
- MetaSVM 0.26
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available