C46F (p.Cys46Phe) variant of PLN (Phospholamban)
C46F (p.Cys46Phe) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- Ensembl rs2114970255
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.72
- MetaLR 0.60
- MetaSVM 0.16
- CADD 22.70
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available